Canonical Allele Identifier: CA645611442
Gene: MT-CYB HGNC NCBI

Linked Data

ClinVar Variation Id: 693796
ClinVar RCV Id: RCV000855190
dbSNP Id: rs1603224981
COSMIC: COSM1636967 COSM1636968
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.14960G>A , J01415.2:m.14960G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361789.2:c.214G>A ENSP00000354554.2:p.Asp72Asn
Search 100 bp 5'
Search 100 bp 3'