Canonical Allele Identifier: CA026469
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 126823
ClinVar RCV Id: RCV000114715
dbSNP Id: rs587778843
gnomAD v4: 13-48364969-G-T
COSMIC: COSM5695288 COSM5695289
MyVariant Identifiers: chr13:g.48939105G>T (hg19) chr13:g.48364969G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48364969G>T , CM000675.2:g.48364969G>T GRCh38
NC_000013.10:g.48939105G>T , CM000675.1:g.48939105G>T GRCh37
NC_000013.9:g.47837106G>T NCBI36
NG_009009.1:g.66223G>T , LRG_517:g.66223G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.937G>T MANE Select ENSP00000267163.4:p.Glu313Ter
ENST00000650461.1:c.937G>T ENSP00000497193.1:p.Glu313Ter
ENST00000267163.4:c.937G>T ENSP00000267163.4:p.Glu313Ter
NM_000321.2:c.937G>T , LRG_517t1:c.937G>T NP_000312.2:p.Glu313Ter
XM_011535171.1:c.676G>T XP_011533473.1:p.Glu226Ter
XM_011535171.2:c.676G>T XP_011533473.1:p.Glu226Ter
XR_002957522.1:n.129C>A
NM_000321.3:c.937G>T MANE Select NP_000312.2:p.Glu313Ter
Search 100 bp 5'
Search 100 bp 3'