Canonical Allele Identifier: CA2607068
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1131638
ClinVar RCV Id: RCV001465580
dbSNP Id: rs756454203
ExAC: 3:129247720 C / T
gnomAD v2: 3-129247720-C-T
gnomAD v3: 3-129528877-C-T
gnomAD v4: 3-129528877-C-T
COSMIC: COSM5398121
MyVariant Identifiers: chr3:g.129247720C>T (hg19) chr3:g.129528877C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528877C>T , CM000665.2:g.129528877C>T GRCh38
NC_000003.11:g.129247720C>T , CM000665.1:g.129247720C>T GRCh37
NC_000003.10:g.130730410C>T NCBI36
NG_009115.1:g.5239C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.144C>T MANE Select ENSP00000296271.3:p.Ile48=
ENST00000296271.3:c.144C>T ENSP00000296271.3:p.Ile48=
NM_000539.3:c.144C>T MANE Select NP_000530.1:p.Ile48=
Search 100 bp 5'
Search 100 bp 3'