Canonical Allele Identifier: CA337097609
Gene: MT-CO1 HGNC NCBI
ClinVar RCV:
RCV000854066
ClinVar Variation:
692741
dbSNP:
9783095
MyVariant.info:
GRCh38 chrMT:g.7389T>C
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.7389T>C , J01415.2:m.7389T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361624.2:c.1486T>C ENSP00000354499.2:p.Tyr496His
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