Canonical Allele Identifier: CA2607182
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1002438
ClinVar RCV Id: RCV001298866
dbSNP Id: rs760894205
ExAC: 3:129249881 G / T
gnomAD v2: 3-129249881-G-T
gnomAD v3: 3-129531038-G-T
gnomAD v4: 3-129531038-G-T
MyVariant Identifiers: chr3:g.129249881G>T (hg19) chr3:g.129531038G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129531038G>T , CM000665.2:g.129531038G>T GRCh38
NC_000003.11:g.129249881G>T , CM000665.1:g.129249881G>T GRCh37
NC_000003.10:g.130732571G>T NCBI36
NG_009115.1:g.7400G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.524G>T MANE Select ENSP00000296271.3:p.Trp175Leu
ENST00000296271.3:c.524G>T ENSP00000296271.3:p.Trp175Leu
NM_000539.3:c.524G>T MANE Select NP_000530.1:p.Trp175Leu
Search 100 bp 5'
Search 100 bp 3'