Canonical Allele Identifier: CA414797750
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 692969
ClinVar RCV Id: RCV000854308
dbSNP Id: rs1603221752
MyVariant Identifiers: chrMT:g.8735T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8735T>C , J01415.2:m.8735T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.209T>C ENSP00000354632.2:p.Leu70Pro