Canonical Allele Identifier: CA2607085
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 900453
ClinVar RCV Id: RCV001145664 RCV001145665
dbSNP Id: rs761101263
ExAC: 3:129247781 C / T
gnomAD v2: 3-129247781-C-T
gnomAD v3: 3-129528938-C-T
gnomAD v4: 3-129528938-C-T
COSMIC: COSM4113345
MyVariant Identifiers: chr3:g.129247781C>T (hg19) chr3:g.129528938C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528938C>T , CM000665.2:g.129528938C>T GRCh38
NC_000003.11:g.129247781C>T , CM000665.1:g.129247781C>T GRCh37
NC_000003.10:g.130730471C>T NCBI36
NG_009115.1:g.5300C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.205C>T MANE Select ENSP00000296271.3:p.Arg69Cys
ENST00000296271.3:c.205C>T ENSP00000296271.3:p.Arg69Cys
NM_000539.3:c.205C>T MANE Select NP_000530.1:p.Arg69Cys
Search 100 bp 5'
Search 100 bp 3'