Canonical Allele Identifier: CA414801715
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 693040
ClinVar RCV Id: RCV000854383
dbSNP Id: rs1603221949
MyVariant Identifiers: chrMT:g.8974C>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8974C>G , J01415.2:m.8974C>G GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.448C>G ENSP00000354632.2:p.Leu150Val