Canonical Allele Identifier: CA2607236
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 984787
ClinVar RCV Id: RCV001265201
dbSNP Id: rs752076372
ExAC: 3:129251236 C / T
gnomAD v2: 3-129251236-C-T
gnomAD v4: 3-129532393-C-T
MyVariant Identifiers: chr3:g.129251236C>T (hg19) chr3:g.129532393C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532393C>T , CM000665.2:g.129532393C>T GRCh38
NC_000003.11:g.129251236C>T , CM000665.1:g.129251236C>T GRCh37
NC_000003.10:g.130733926C>T NCBI36
NG_009115.1:g.8755C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.673C>T MANE Select ENSP00000296271.3:p.Gln225Ter
ENST00000296271.3:c.673C>T ENSP00000296271.3:p.Gln225Ter
NM_000539.3:c.673C>T MANE Select NP_000530.1:p.Gln225Ter
Search 100 bp 5'
Search 100 bp 3'