Canonical Allele Identifier: CA414791482
Gene: MT-CO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 692703
ClinVar RCV Id: RCV000854028
dbSNP Id: rs1603220794
MyVariant Identifiers: chrMT:g.7138T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.7138T>C , J01415.2:m.7138T>C GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361624.2:c.1235T>C ENSP00000354499.2:p.Ile412Thr
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