Canonical Allele Identifier: CA483558084
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1066671
ClinVar RCV Id: RCV001377729
dbSNP Id: rs2138116702
MyVariant Identifiers: chr13:g.48939107G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48364971G>A , CM000675.2:g.48364971G>A GRCh38
NC_000013.10:g.48939107G>A , CM000675.1:g.48939107G>A GRCh37
NC_000013.9:g.47837108G>A NCBI36
NG_009009.1:g.66225G>A , LRG_517:g.66225G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.939G>A MANE Select ENSP00000267163.4:p.Glu313=
ENST00000650461.1:c.939G>A ENSP00000497193.1:p.Glu313=
ENST00000267163.4:c.939G>A ENSP00000267163.4:p.Glu313=
NM_000321.2:c.939G>A , LRG_517t1:c.939G>A NP_000312.2:p.Glu313=
XM_011535171.1:c.678G>A XP_011533473.1:p.Glu226=
XM_011535171.2:c.678G>A XP_011533473.1:p.Glu226=
XR_002957522.1:n.127C>T
NM_000321.3:c.939G>A MANE Select NP_000312.2:p.Glu313=
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