Canonical Allele Identifier: CA034188
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 312294
ClinVar RCV Id: RCV000363349
dbSNP Id: rs750581965
ExAC: 13:49033977 A / G
gnomAD v2: 13-49033977-A-G
gnomAD v3: 13-48459841-A-G
gnomAD v4: 13-48459841-A-G
MyVariant Identifiers: chr13:g.49033977A>G (hg19) chr13:g.48459841A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459841A>G , CM000675.2:g.48459841A>G GRCh38
NC_000013.10:g.49033977A>G , CM000675.1:g.49033977A>G GRCh37
NC_000013.9:g.47931978A>G NCBI36
NG_009009.1:g.161095A>G , LRG_517:g.161095A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2106+8A>G MANE Select ENSP00000267163.4:n.2106+8A>G
ENST00000643064.1:c.194+78398A>G
ENST00000650461.1:c.2106+8A>G ENSP00000497193.1:n.2106+8A>G
ENST00000267163.4:c.2106+8A>G ENSP00000267163.4:n.2106+8A>G
NM_000321.2:c.2106+8A>G , LRG_517t1:c.2106+8A>G NP_000312.2:n.2106+8A>G
XM_011535171.1:c.1845+8A>G XP_011533473.1:n.1845+8A>G
XM_011535171.2:c.1845+8A>G XP_011533473.1:n.1845+8A>G
NM_000321.3:c.2106+8A>G MANE Select NP_000312.2:n.2106+8A>G
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