Canonical Allele Identifier: CA414801732
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 931216
ClinVar RCV Id: RCV001197582
dbSNP Id: rs2068713551
MyVariant Identifiers: chrMT:g.8980C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8980C>A , J01415.2:m.8980C>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.454C>A ENSP00000354632.2:p.Gln152Lys
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