Example of Variation profile of CYP2C19 at Position 1016 as VCF (id = "example-variation-cyp2c19-1016-vcf")

<?xml version="1.0" encoding="UTF-8"?>

<MolecularDefinition xmlns="http://hl7.org/fhir">
  <id value="example-variation-cyp2c19-1016-vcf"/> 
  <meta> 
    <profile value="http://hl7.org/fhir/StructureDefinition/variation"/> 
  </meta> 
  <type value="dna"/> 
  <location> 
    <sequenceLocation> 
      <sequenceContext> 
        <reference value="MolecularDefinition/example-sequence-nm0007694-url"/> 
        <type value="MolecularDefinition"/> 
        <display value="Starting Sequence Resource: (CYP2C19), mRNA, NM_000769.4"/> 
      </sequenceContext> 
      <coordinateInterval> 
        <numberingSystem> 
          <coding> 
            <system value="http://loinc.org"/> 
            <code value="LA30102-0"/> 
            <display value="1-based character counting"/> 
          </coding> 
          <text value="1-based character counting"/> 
        </numberingSystem> 
        <startQuantity> 
          <value value="1016"/> 
        </startQuantity> 
      </coordinateInterval> 
    </sequenceLocation> 
  </location> 
  <representation> 
    <focus> 
      <coding> 
        <system value="http://hl7.org/fhir/moleculardefinition-focus"/> 
        <code value="reference-state"/> 
        <display value="Reference State"/> 
      </coding> 
    </focus> 
    <literal> 
      <value value="A"/> 
    </literal> 
  </representation> 
  <representation> 
    <focus> 
      <coding> 
        <system value="http://hl7.org/fhir/moleculardefinition-focus"/> 
        <code value="alternative-state"/> 
        <display value="Alternative State"/> 
      </coding> 
    </focus> 
    <literal> 
      <value value="G"/> 
    </literal> 
  </representation> 
</MolecularDefinition>