Canonical Allele Identifier: CA2607227
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 899388
ClinVar RCV Id: RCV001143872 RCV001150000 RCV001423121
dbSNP Id: rs371192803
ExAC: 3:129251193 C / T
gnomAD v2: 3-129251193-C-T
gnomAD v3: 3-129532350-C-T
gnomAD v4: 3-129532350-C-T
MyVariant Identifiers: chr3:g.129251193C>T (hg19) chr3:g.129532350C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532350C>T , CM000665.2:g.129532350C>T GRCh38
NC_000003.11:g.129251193C>T , CM000665.1:g.129251193C>T GRCh37
NC_000003.10:g.130733883C>T NCBI36
NG_009115.1:g.8712C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.630C>T MANE Select ENSP00000296271.3:p.Val210=
ENST00000296271.3:c.630C>T ENSP00000296271.3:p.Val210=
NM_000539.3:c.630C>T MANE Select NP_000530.1:p.Val210=
Search 100 bp 5'
Search 100 bp 3'