Canonical Allele Identifier: CA955795708

Gene: RB1

Linked Data

• ClinVar Variation Id: 1542896
• ClinVar RCV Id: RCV002167599
• dbSNP Id: rs1948532675
• gnomAD v3: 13-48381230-T-C
• gnomAD v4: 13-48381230-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48381230T>C , CM000675.2:g.48381230T>C	GRCh38
NC_000013.10:g.48955366T>C , CM000675.1:g.48955366T>C	GRCh37
NC_000013.9:g.47853367T>C	NCBI36
NG_009009.1:g.82484T>C , LRG_517:g.82484T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1499-17T>C MANE Select	ENSP00000267163.4:n.1499-17T>C
ENST00000650461.1:c.1499-17T>C	ENSP00000497193.1:n.1499-17T>C
ENST00000267163.4:c.1499-17T>C	ENSP00000267163.4:n.1499-17T>C
NM_000321.2:c.1499-17T>C , LRG_517t1:c.1499-17T>C	NP_000312.2:n.1499-17T>C
XM_011535171.1:c.1238-17T>C	XP_011533473.1:n.1238-17T>C
XM_011535171.2:c.1238-17T>C	XP_011533473.1:n.1238-17T>C
NM_000321.3:c.1499-17T>C MANE Select	NP_000312.2:n.1499-17T>C