Canonical Allele Identifier: CA2607076
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 3027571
ClinVar RCV Id: RCV003890825
dbSNP Id: rs747002188
ExAC: 3:129247753 C / G
gnomAD v2: 3-129247753-C-G
gnomAD v3: 3-129528910-C-G
gnomAD v4: 3-129528910-C-G
COSMIC: COSM164008
MyVariant Identifiers: chr3:g.129247753C>G (hg19) chr3:g.129528910C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528910C>G , CM000665.2:g.129528910C>G GRCh38
NC_000003.11:g.129247753C>G , CM000665.1:g.129247753C>G GRCh37
NC_000003.10:g.130730443C>G NCBI36
NG_009115.1:g.5272C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.177C>G MANE Select ENSP00000296271.3:p.Leu59=
ENST00000296271.3:c.177C>G ENSP00000296271.3:p.Leu59=
NM_000539.3:c.177C>G MANE Select NP_000530.1:p.Leu59=
Search 100 bp 5'
Search 100 bp 3'