Canonical Allele Identifier: CA2607096
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1427042
ClinVar RCV Id: RCV001945808
dbSNP Id: rs745643650
ExAC: 3:129247818 T / C
gnomAD v2: 3-129247818-T-C
gnomAD v4: 3-129528975-T-C
MyVariant Identifiers: chr3:g.129247818T>C (hg19) chr3:g.129528975T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528975T>C , CM000665.2:g.129528975T>C GRCh38
NC_000003.11:g.129247818T>C , CM000665.1:g.129247818T>C GRCh37
NC_000003.10:g.130730508T>C NCBI36
NG_009115.1:g.5337T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.242T>C MANE Select ENSP00000296271.3:p.Val81Ala
ENST00000296271.3:c.242T>C ENSP00000296271.3:p.Val81Ala
NM_000539.3:c.242T>C MANE Select NP_000530.1:p.Val81Ala
Search 100 bp 5'
Search 100 bp 3'