Canonical Allele Identifier: CA122820
Gene: RHO HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 13036
ClinVar RCV Id: RCV000013911
dbSNP Id: rs104893783
COSMIC: COSM139481

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532581G>T , CM000665.2:g.129532581G>T GRCh38
NC_000003.10:g.130734114G>T NCBI36
NC_000003.11:g.129251424G>T , CM000665.1:g.129251424G>T GRCh37
NG_009115.1:g.8943G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.3:c.745G>T ENSP00000296271.3:p.Glu249Ter
NM_000539.3:c.745G>T NP_000530.1:p.Glu249Ter