Canonical Allele Identifier: CA036194

Gene: RB1

Linked Data

• ClinVar Variation Id: 458153
• ClinVar RCV Id: RCV000552996 ; RCV000563507 ; RCV002510914
• dbSNP Id: rs144668210
• ExAC: 13:49050886 G / A
• gnomAD v2: 13-49050886-G-A
• gnomAD v3: 13-48476750-G-A
• gnomAD v4: 13-48476750-G-A
• COSMIC: COSM947807 ; COSM1587090
• MyVariant Identifiers: chr13:g.49050886G>A (hg19) ; chr13:g.48476750G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476750G>A , CM000675.2:g.48476750G>A	GRCh38
NC_000013.10:g.49050886G>A , CM000675.1:g.49050886G>A	GRCh37
NC_000013.9:g.47948887G>A	NCBI36
NG_009009.1:g.178004G>A , LRG_517:g.178004G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2570G>A MANE Select	ENSP00000267163.4:p.Arg857His
ENST00000643064.1:c.194+95307G>A
ENST00000650461.1:c.2570G>A	ENSP00000497193.1:p.Arg857His
ENST00000267163.4:c.2570G>A	ENSP00000267163.4:p.Arg857His
ENST00000484879.1:n.304G>A
ENST00000531171.5:n.173G>A
NM_000321.2:c.2570G>A , LRG_517t1:c.2570G>A	NP_000312.2:p.Arg857His
XM_011535171.1:c.2309G>A	XP_011533473.1:p.Arg770His
XM_011535171.2:c.2309G>A	XP_011533473.1:p.Arg770His
NM_000321.3:c.2570G>A MANE Select	NP_000312.2:p.Arg857His