Canonical Allele Identifier: CA2573149572
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1571062
ClinVar RCV Id: RCV002205784
dbSNP Id: rs2138116208
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48364882C>G , CM000675.2:g.48364882C>G GRCh38
NC_000013.10:g.48939018C>G , CM000675.1:g.48939018C>G GRCh37
NC_000013.9:g.47837019C>G NCBI36
NG_009009.1:g.66136C>G , LRG_517:g.66136C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.862-12C>G MANE Select ENSP00000267163.4:n.862-12C>G
ENST00000650461.1:c.862-12C>G ENSP00000497193.1:n.862-12C>G
ENST00000267163.4:c.862-12C>G ENSP00000267163.4:n.862-12C>G
NM_000321.2:c.862-12C>G , LRG_517t1:c.862-12C>G NP_000312.2:n.862-12C>G
XM_011535171.1:c.601-12C>G XP_011533473.1:n.601-12C>G
XM_011535171.2:c.601-12C>G XP_011533473.1:n.601-12C>G
NM_000321.3:c.862-12C>G MANE Select NP_000312.2:n.862-12C>G
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