Canonical Allele Identifier: CA414798579
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 693007
ClinVar RCV Id: RCV000854347
dbSNP Id: rs1603221856
COSMIC: COSM1331623 COSM1331624
MyVariant Identifiers: chrMT:g.8866A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8866A>G , J01415.2:m.8866A>G GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.340A>G ENSP00000354632.2:p.Ile114Val
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