Canonical Allele Identifier: CA2607209
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 969837
ClinVar RCV Id: RCV001245275 RCV003887964
dbSNP Id: rs373974298
ExAC: 3:129251141 C / T
gnomAD v2: 3-129251141-C-T
gnomAD v3: 3-129532298-C-T
gnomAD v4: 3-129532298-C-T
MyVariant Identifiers: chr3:g.129251141C>T (hg19) chr3:g.129532298C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532298C>T , CM000665.2:g.129532298C>T GRCh38
NC_000003.11:g.129251141C>T , CM000665.1:g.129251141C>T GRCh37
NC_000003.10:g.130733831C>T NCBI36
NG_009115.1:g.8660C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.578C>T MANE Select ENSP00000296271.3:p.Thr193Met
ENST00000296271.3:c.578C>T ENSP00000296271.3:p.Thr193Met
NM_000539.3:c.578C>T MANE Select NP_000530.1:p.Thr193Met
Search 100 bp 5'
Search 100 bp 3'