Canonical Allele Identifier: CA337098132
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 693041
ClinVar RCV Id: RCV000854384 RCV001824896
dbSNP Id: rs1981459
MyVariant Identifiers: chrMT:g.8975T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8975T>C , J01415.2:m.8975T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.449T>C ENSP00000354632.2:p.Leu150Pro
Search 100 bp 5'
Search 100 bp 3'