Canonical Allele Identifier: CA2575413647
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2918322
ClinVar RCV Id: RCV003627556
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459671T>G , CM000675.2:g.48459671T>G GRCh38
NC_000013.10:g.49033807T>G , CM000675.1:g.49033807T>G GRCh37
NC_000013.9:g.47931808T>G NCBI36
NG_009009.1:g.160925T>G , LRG_517:g.160925T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1961-17T>G MANE Select ENSP00000267163.4:n.1961-17T>G
ENST00000643064.1:c.194+78228T>G
ENST00000650461.1:c.1961-17T>G ENSP00000497193.1:n.1961-17T>G
ENST00000267163.4:c.1961-17T>G ENSP00000267163.4:n.1961-17T>G
NM_000321.2:c.1961-17T>G , LRG_517t1:c.1961-17T>G NP_000312.2:n.1961-17T>G
XM_011535171.1:c.1700-17T>G XP_011533473.1:n.1700-17T>G
XM_011535171.2:c.1700-17T>G XP_011533473.1:n.1700-17T>G
NM_000321.3:c.1961-17T>G MANE Select NP_000312.2:n.1961-17T>G
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