Canonical Allele Identifier: CA2573149570
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1652408
ClinVar RCV Id: RCV002156155
dbSNP Id: rs2138116202
gnomAD v4: 13-48364880-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48364880T>C , CM000675.2:g.48364880T>C GRCh38
NC_000013.10:g.48939016T>C , CM000675.1:g.48939016T>C GRCh37
NC_000013.9:g.47837017T>C NCBI36
NG_009009.1:g.66134T>C , LRG_517:g.66134T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.862-14T>C MANE Select ENSP00000267163.4:n.862-14T>C
ENST00000650461.1:c.862-14T>C ENSP00000497193.1:n.862-14T>C
ENST00000267163.4:c.862-14T>C ENSP00000267163.4:n.862-14T>C
NM_000321.2:c.862-14T>C , LRG_517t1:c.862-14T>C NP_000312.2:n.862-14T>C
XM_011535171.1:c.601-14T>C XP_011533473.1:n.601-14T>C
XM_011535171.2:c.601-14T>C XP_011533473.1:n.601-14T>C
NM_000321.3:c.862-14T>C MANE Select NP_000312.2:n.862-14T>C
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