Canonical Allele Identifier: CA388160104
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 995889
ClinVar RCV Id: RCV001523805
dbSNP Id: rs2138116708
gnomAD v4: 13-48364972-G-A
COSMIC: COSM3813939 COSM3813940
MyVariant Identifiers: chr13:g.48939108G>A (hg19) chr13:g.48364972G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48364972G>A , CM000675.2:g.48364972G>A GRCh38
NC_000013.10:g.48939108G>A , CM000675.1:g.48939108G>A GRCh37
NC_000013.9:g.47837109G>A NCBI36
NG_009009.1:g.66226G>A , LRG_517:g.66226G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.939+1G>A MANE Select ENSP00000267163.4:n.939+1G>A
ENST00000650461.1:c.939+1G>A ENSP00000497193.1:n.939+1G>A
ENST00000267163.4:c.939+1G>A ENSP00000267163.4:n.939+1G>A
NM_000321.2:c.939+1G>A , LRG_517t1:c.939+1G>A NP_000312.2:n.939+1G>A
XM_011535171.1:c.678+1G>A XP_011533473.1:n.678+1G>A
XM_011535171.2:c.678+1G>A XP_011533473.1:n.678+1G>A
XR_002957522.1:n.126C>T
NM_000321.3:c.939+1G>A MANE Select NP_000312.2:n.939+1G>A
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