Canonical Allele Identifier: CA2607204
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 866002
ClinVar RCV Id: RCV001073677
dbSNP Id: rs775557680
ExAC: 3:129251104 G / C
gnomAD v2: 3-129251104-G-C
gnomAD v4: 3-129532261-G-C
MyVariant Identifiers: chr3:g.129251104G>C (hg19) chr3:g.129532261G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532261G>C , CM000665.2:g.129532261G>C GRCh38
NC_000003.11:g.129251104G>C , CM000665.1:g.129251104G>C GRCh37
NC_000003.10:g.130733794G>C NCBI36
NG_009115.1:g.8623G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.541G>C MANE Select ENSP00000296271.3:p.Glu181Gln
ENST00000296271.3:c.541G>C ENSP00000296271.3:p.Glu181Gln
NM_000539.3:c.541G>C MANE Select NP_000530.1:p.Glu181Gln
Search 100 bp 5'
Search 100 bp 3'