Canonical Allele Identifier: CA388250191
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3072290
ClinVar RCV Id: RCV004012320
dbSNP Id: rs587778852
gnomAD v4: 13-48303943-G-A
COSMIC: COSM6418913 COSM6418914
MyVariant Identifiers: chr13:g.48878079G>A (hg19) chr13:g.48303943G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303943G>A , CM000675.2:g.48303943G>A GRCh38
NC_000013.10:g.48878079G>A , CM000675.1:g.48878079G>A GRCh37
NC_000013.9:g.47776080G>A NCBI36
NG_009009.1:g.5197G>A , LRG_517:g.5197G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.31G>A MANE Select ENSP00000267163.4:p.Ala11Thr
ENST00000646097.1:c.31G>A ENSP00000496556.1:p.Ala11Thr
ENST00000650461.1:c.31G>A ENSP00000497193.1:p.Ala11Thr
ENST00000267163.4:c.31G>A ENSP00000267163.4:p.Ala11Thr
ENST00000467505.5:c.31G>A ENSP00000434702.1:p.Ala11Thr
ENST00000525036.1:n.193G>A
NM_000321.2:c.31G>A , LRG_517t1:c.31G>A NP_000312.2:p.Ala11Thr
NM_000321.3:c.31G>A MANE Select NP_000312.2:p.Ala11Thr
Search 100 bp 5'
Search 100 bp 3'