Canonical Allele Identifier: CA256693
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 13052
ClinVar RCV Id: RCV000013927 RCV001213632
dbSNP Id: rs104893795
gnomAD v4: 3-129533704-G-C
MyVariant Identifiers: chr3:g.129252547G>C (hg19) chr3:g.129533704G>C (hg38)
PubMed: PMID:8088850
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129533704G>C , CM000665.2:g.129533704G>C GRCh38
NC_000003.11:g.129252547G>C , CM000665.1:g.129252547G>C GRCh37
NC_000003.10:g.130735237G>C NCBI36
NG_009115.1:g.10066G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.1033G>C MANE Select ENSP00000296271.3:p.Val345Leu
ENST00000296271.3:c.1033G>C ENSP00000296271.3:p.Val345Leu
NM_000539.3:c.1033G>C MANE Select NP_000530.1:p.Val345Leu
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