Canonical Allele Identifier: CA2573149555
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1394073
ClinVar RCV Id: RCV001927313
dbSNP Id: rs2138028119
gnomAD v4: 13-48304053-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48304053A>G , CM000675.2:g.48304053A>G GRCh38
NC_000013.10:g.48878189A>G , CM000675.1:g.48878189A>G GRCh37
NC_000013.9:g.47776190A>G NCBI36
NG_009009.1:g.5307A>G , LRG_517:g.5307A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.137+4A>G MANE Select ENSP00000267163.4:n.137+4A>G
ENST00000646097.1:c.137+4A>G ENSP00000496556.1:n.137+4A>G
ENST00000650461.1:c.137+4A>G ENSP00000497193.1:n.137+4A>G
ENST00000267163.4:c.137+4A>G ENSP00000267163.4:n.137+4A>G
ENST00000467505.5:c.137+4A>G ENSP00000434702.1:n.137+4A>G
ENST00000525036.1:n.299+4A>G
NM_000321.2:c.137+4A>G , LRG_517t1:c.137+4A>G NP_000312.2:n.137+4A>G
NM_000321.3:c.137+4A>G MANE Select NP_000312.2:n.137+4A>G
Search 100 bp 5'
Search 100 bp 3'