Canonical Allele Identifier: CA913180603
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 693008
ClinVar RCV Id: RCV000854348
dbSNP Id: rs1556423556

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8868T>A , J01415.2:m.8868T>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.342T>A ENSP00000354632.2:p.Ile114=