Canonical Allele Identifier: CA913174309
Gene: MT-CYB HGNC NCBI

Linked Data

ClinVar Variation Id: 693911
ClinVar RCV Id: RCV000855328
dbSNP Id: rs1603225369

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.15596G>A , J01415.2:m.15596G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361789.2:c.850G>A ENSP00000354554.2:p.Val284Ile