Canonical Allele Identifier: CA026383
Gene: RB1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 126840
dbSNP Id: rs121913303

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48381402C>T , CM000675.2:g.48381402C>T GRCh38
NC_000013.10:g.48955538C>T , CM000675.1:g.48955538C>T GRCh37
NC_000013.9:g.47853539C>T NCBI36
NG_009009.1:g.82656C>T , LRG_517:g.82656C>T

Transcript Alleles

HGVS Amino-acid change
NM_000321.2:c.1654C>T , LRG_517t1:c.1654C>T NP_000312.2:p.Arg552Ter
XM_011535171.1:c.1393C>T XP_011533473.1:p.Arg465Ter
XM_011535171.2:c.1393C>T XP_011533473.1:p.Arg465Ter
ENST00000267163.4:c.1654C>T ENSP00000267163.4:p.Arg552Ter