Canonical Allele Identifier: CA913181515
Gene: MT-CO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 994645
ClinVar RCV Id: RCV001288246
dbSNP Id: rs1556423143
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.6497T>C , J01415.2:m.6497T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361624.2:c.594T>C ENSP00000354499.2:p.Ser198=
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