Canonical Allele Identifier: CA337098139
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 693048
ClinVar RCV Id: RCV000854392
dbSNP Id: rs376792657
MyVariant Identifiers: chrMT:g.8998G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8998G>A , J01415.2:m.8998G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.472G>A ENSP00000354632.2:p.Val158Ile
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