Canonical Allele Identifier: CA2607180
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 964188
ClinVar RCV Id: RCV001238364
dbSNP Id: rs139731264
ExAC: 3:129249874 G / A
gnomAD v2: 3-129249874-G-A
gnomAD v3: 3-129531031-G-A
gnomAD v4: 3-129531031-G-A
COSMIC: COSM4113348
MyVariant Identifiers: chr3:g.129249874G>A (hg19) chr3:g.129531031G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129531031G>A , CM000665.2:g.129531031G>A GRCh38
NC_000003.11:g.129249874G>A , CM000665.1:g.129249874G>A GRCh37
NC_000003.10:g.130732564G>A NCBI36
NG_009115.1:g.7393G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.517G>A MANE Select ENSP00000296271.3:p.Ala173Thr
ENST00000296271.3:c.517G>A ENSP00000296271.3:p.Ala173Thr
NM_000539.3:c.517G>A MANE Select NP_000530.1:p.Ala173Thr
Search 100 bp 5'
Search 100 bp 3'