Canonical Allele Identifier: CA2607253
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 2992213
ClinVar RCV Id: RCV003855340
dbSNP Id: rs55915536
ExAC: 3:129251271 G / C
gnomAD v3: 3-129532428-G-C
gnomAD v4: 3-129532428-G-C
COSMIC: COSN9236481
MyVariant Identifiers: chr3:g.129251271G>C (hg19) chr3:g.129532428G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532428G>C , CM000665.2:g.129532428G>C GRCh38
NC_000003.11:g.129251271G>C , CM000665.1:g.129251271G>C GRCh37
NC_000003.10:g.130733961G>C NCBI36
NG_009115.1:g.8790G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.696+12G>C MANE Select ENSP00000296271.3:n.696+12G>C
ENST00000296271.3:c.696+12G>C ENSP00000296271.3:n.696+12G>C
NM_000539.3:c.696+12G>C MANE Select NP_000530.1:n.696+12G>C
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