Canonical Allele Identifier: CA035443

Gene: RB1

Linked Data

• ClinVar Variation Id: 410950
• ClinVar RCV Id: RCV000467563 ; RCV000566527 ; RCV003942492
• dbSNP Id: rs187912365
• ExAC: 13:49039407 C / T
• gnomAD v2: 13-49039407-C-T
• gnomAD v3: 13-48465271-C-T
• gnomAD v4: 13-48465271-C-T
• COSMIC: COSM925 ; COSM3369088
• MyVariant Identifiers: chr13:g.49039407C>T (hg19) ; chr13:g.48465271C>T (hg38)
• PubMed: PMID:24509483

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48465271C>T , CM000675.2:g.48465271C>T	GRCh38
NC_000013.10:g.49039407C>T , CM000675.1:g.49039407C>T	GRCh37
NC_000013.9:g.47937408C>T	NCBI36
NG_009009.1:g.166525C>T , LRG_517:g.166525C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2392C>T MANE Select	ENSP00000267163.4:p.Arg798Trp
ENST00000643064.1:c.194+83828C>T
ENST00000650461.1:c.2392C>T	ENSP00000497193.1:p.Arg798Trp
ENST00000267163.4:c.2392C>T	ENSP00000267163.4:p.Arg798Trp
NM_000321.2:c.2392C>T , LRG_517t1:c.2392C>T	NP_000312.2:p.Arg798Trp
XM_011535171.1:c.2131C>T	XP_011533473.1:p.Arg711Trp
XM_011535171.2:c.2131C>T	XP_011533473.1:p.Arg711Trp
NM_000321.3:c.2392C>T MANE Select	NP_000312.2:p.Arg798Trp