Canonical Allele Identifier: CA337098034
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 692987
ClinVar RCV Id: RCV000854326
dbSNP Id: rs2298007
COSMIC: COSM488775 COSM1138408
MyVariant Identifiers: chrMT:g.8794C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8794C>T , J01415.2:m.8794C>T GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361899.2:c.268C>T ENSP00000354632.2:p.His90Tyr
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Search 100 bp 3'