Canonical Allele Identifier: CA249842021
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 527924
ClinVar RCV Id: RCV000632954 RCV003321697
dbSNP Id: rs898303682
gnomAD v4: 13-48303925-A-C
MyVariant Identifiers: chr13:g.48878061A>C (hg19) chr13:g.48303925A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303925A>C , CM000675.2:g.48303925A>C GRCh38
NC_000013.10:g.48878061A>C , CM000675.1:g.48878061A>C GRCh37
NC_000013.9:g.47776062A>C NCBI36
NG_009009.1:g.5179A>C , LRG_517:g.5179A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.13A>C MANE Select ENSP00000267163.4:p.Thr5Pro
ENST00000646097.1:c.13A>C ENSP00000496556.1:p.Thr5Pro
ENST00000650461.1:c.13A>C ENSP00000497193.1:p.Thr5Pro
ENST00000267163.4:c.13A>C ENSP00000267163.4:p.Thr5Pro
ENST00000467505.5:c.13A>C ENSP00000434702.1:p.Thr5Pro
ENST00000525036.1:n.175A>C
NM_000321.2:c.13A>C , LRG_517t1:c.13A>C NP_000312.2:p.Thr5Pro
NM_000321.3:c.13A>C MANE Select NP_000312.2:p.Thr5Pro
Search 100 bp 5'
Search 100 bp 3'