Canonical Allele Identifier: CA026398
Gene: RB1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 126785
dbSNP Id: rs121913305

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48453032C>T , CM000675.2:g.48453032C>T GRCh38
NC_000013.9:g.47925169C>T NCBI36
NC_000013.10:g.49027168C>T , CM000675.1:g.49027168C>T GRCh37
NG_009009.1:g.154286C>T , LRG_517:g.154286C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.4:c.1735C>T ENSP00000267163.4:p.Arg579Ter
ENST00000480491.1:n.434C>T
NM_000321.2:c.1735C>T , LRG_517t1:c.1735C>T NP_000312.2:p.Arg579Ter
XM_011535171.1:c.1474C>T XP_011533473.1:p.Arg492Ter