Canonical Allele Identifier: CA256666
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 13019
ClinVar RCV Id: RCV000013893 RCV001851838
dbSNP Id: rs104893770
ExAC: 3:129247709 T / C
gnomAD v2: 3-129247709-T-C
gnomAD v3: 3-129528866-T-C
gnomAD v4: 3-129528866-T-C
MyVariant Identifiers: chr3:g.129247709T>C (hg19) chr3:g.129528866T>C (hg38)
PubMed: PMID:1862076
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528866T>C , CM000665.2:g.129528866T>C GRCh38
NC_000003.11:g.129247709T>C , CM000665.1:g.129247709T>C GRCh37
NC_000003.10:g.130730399T>C NCBI36
NG_009115.1:g.5228T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.133T>C MANE Select ENSP00000296271.3:p.Phe45Leu
ENST00000296271.3:c.133T>C ENSP00000296271.3:p.Phe45Leu
NM_000539.3:c.133T>C MANE Select NP_000530.1:p.Phe45Leu
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Search 100 bp 3'