Canonical Allele Identifier: CA249308167
Gene: RB1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 13088
ClinVar RCV Id: RCV000013963
dbSNP Id: rs137853295

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459750G>T , CM000675.2:g.48459750G>T GRCh38
NC_000013.10:g.49033886G>T , CM000675.1:g.49033886G>T GRCh37
NC_000013.9:g.47931887G>T NCBI36
NG_009009.1:g.161004G>T , LRG_517:g.161004G>T

Transcript Alleles

HGVS Amino-acid change
NM_000321.2:c.2023G>T , LRG_517t1:c.2023G>T NP_000312.2:p.Glu675Ter
XM_011535171.1:c.1762G>T XP_011533473.1:p.Glu588Ter
XM_011535171.2:c.1762G>T
ENST00000267163.4:c.2023G>T ENSP00000267163.4:p.Glu675Ter