Canonical Allele Identifier: CA033741

Gene: RB1

Linked Data

• ClinVar Variation Id: 312292
• ClinVar RCV Id: RCV000397474 ; RCV001014061 ; RCV003441836
• dbSNP Id: rs551747882
• ExAC: 13:49033866 G / A
• gnomAD v2: 13-49033866-G-A
• gnomAD v3: 13-48459730-G-A
• gnomAD v4: 13-48459730-G-A
• COSMIC: COSM4384826 ; COSM4384827
• MyVariant Identifiers: chr13:g.49033866G>A (hg19) ; chr13:g.48459730G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459730G>A , CM000675.2:g.48459730G>A	GRCh38
NC_000013.10:g.49033866G>A , CM000675.1:g.49033866G>A	GRCh37
NC_000013.9:g.47931867G>A	NCBI36
NG_009009.1:g.160984G>A , LRG_517:g.160984G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2003G>A MANE Select	ENSP00000267163.4:p.Arg668His
ENST00000643064.1:c.194+78287G>A
ENST00000650461.1:c.2003G>A	ENSP00000497193.1:p.Arg668His
ENST00000267163.4:c.2003G>A	ENSP00000267163.4:p.Arg668His
NM_000321.2:c.2003G>A , LRG_517t1:c.2003G>A	NP_000312.2:p.Arg668His
XM_011535171.1:c.1742G>A	XP_011533473.1:p.Arg581His
XM_011535171.2:c.1742G>A	XP_011533473.1:p.Arg581His
NM_000321.3:c.2003G>A MANE Select	NP_000312.2:p.Arg668His