Canonical Allele Identifier: CA414797880
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 692975
ClinVar RCV Id: RCV000854314
dbSNP Id: rs1556423532
MyVariant Identifiers: chrMT:g.8756T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8756T>C , J01415.2:m.8756T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.230T>C ENSP00000354632.2:p.Ile77Thr
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