Canonical Allele Identifier: CA2622977320
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2915874
ClinVar RCV Id: RCV003627511
dbSNP Id: rs1952055240
gnomAD v4: 13-48304056-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48304056G>T , CM000675.2:g.48304056G>T GRCh38
NC_000013.10:g.48878192G>T , CM000675.1:g.48878192G>T GRCh37
NC_000013.9:g.47776193G>T NCBI36
NG_009009.1:g.5310G>T , LRG_517:g.5310G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.137+7G>T MANE Select ENSP00000267163.4:n.137+7G>T
ENST00000646097.1:c.137+7G>T ENSP00000496556.1:n.137+7G>T
ENST00000650461.1:c.137+7G>T ENSP00000497193.1:n.137+7G>T
ENST00000267163.4:c.137+7G>T ENSP00000267163.4:n.137+7G>T
ENST00000467505.5:c.137+7G>T ENSP00000434702.1:n.137+7G>T
ENST00000525036.1:n.299+7G>T
NM_000321.2:c.137+7G>T , LRG_517t1:c.137+7G>T NP_000312.2:n.137+7G>T
NM_000321.3:c.137+7G>T MANE Select NP_000312.2:n.137+7G>T
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