Canonical Allele Identifier: CA388250390
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 653263
ClinVar RCV Id: RCV000809007 RCV002381794
dbSNP Id: rs1345893304
gnomAD v2: 13-48878178-C-A
gnomAD v4: 13-48304042-C-A
MyVariant Identifiers: chr13:g.48878178C>A (hg19) chr13:g.48304042C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48304042C>A , CM000675.2:g.48304042C>A GRCh38
NC_000013.10:g.48878178C>A , CM000675.1:g.48878178C>A GRCh37
NC_000013.9:g.47776179C>A NCBI36
NG_009009.1:g.5296C>A , LRG_517:g.5296C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.130C>A MANE Select ENSP00000267163.4:p.Leu44Ile
ENST00000646097.1:c.130C>A ENSP00000496556.1:p.Leu44Ile
ENST00000650461.1:c.130C>A ENSP00000497193.1:p.Leu44Ile
ENST00000267163.4:c.130C>A ENSP00000267163.4:p.Leu44Ile
ENST00000467505.5:c.130C>A ENSP00000434702.1:p.Leu44Ile
ENST00000525036.1:n.292C>A
NM_000321.2:c.130C>A , LRG_517t1:c.130C>A NP_000312.2:p.Leu44Ile
NM_000321.3:c.130C>A MANE Select NP_000312.2:p.Leu44Ile
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