Canonical Allele Identifier: CA033725
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 640870
ClinVar RCV Id: RCV000793991 RCV002422691
dbSNP Id: rs369755801
ExAC: 13:49033865 C / T
gnomAD v2: 13-49033865-C-T
gnomAD v3: 13-48459729-C-T
gnomAD v4: 13-48459729-C-T
MyVariant Identifiers: chr13:g.49033865C>T (hg19) chr13:g.48459729C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459729C>T , CM000675.2:g.48459729C>T GRCh38
NC_000013.10:g.49033865C>T , CM000675.1:g.49033865C>T GRCh37
NC_000013.9:g.47931866C>T NCBI36
NG_009009.1:g.160983C>T , LRG_517:g.160983C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2002C>T MANE Select ENSP00000267163.4:p.Arg668Cys
ENST00000643064.1:c.194+78286C>T
ENST00000650461.1:c.2002C>T ENSP00000497193.1:p.Arg668Cys
ENST00000267163.4:c.2002C>T ENSP00000267163.4:p.Arg668Cys
NM_000321.2:c.2002C>T , LRG_517t1:c.2002C>T NP_000312.2:p.Arg668Cys
XM_011535171.1:c.1741C>T XP_011533473.1:p.Arg581Cys
XM_011535171.2:c.1741C>T XP_011533473.1:p.Arg581Cys
NM_000321.3:c.2002C>T MANE Select NP_000312.2:p.Arg668Cys
Search 100 bp 5'
Search 100 bp 3'