Canonical Allele Identifier: CA034139
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs538002873
ExAC: 13:49034012 T / G
gnomAD v2: 13-49034012-T-G
gnomAD v3: 13-48459876-T-G
gnomAD v4: 13-48459876-T-G
MyVariant Identifiers: chr13:g.49034012T>G (hg19) chr13:g.48459876T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459876T>G , CM000675.2:g.48459876T>G GRCh38
NC_000013.10:g.49034012T>G , CM000675.1:g.49034012T>G GRCh37
NC_000013.9:g.47932013T>G NCBI36
NG_009009.1:g.161130T>G , LRG_517:g.161130T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2106+43T>G MANE Select ENSP00000267163.4:n.2106+43T>G
ENST00000643064.1:c.194+78433T>G
ENST00000650461.1:c.2106+43T>G ENSP00000497193.1:n.2106+43T>G
ENST00000267163.4:c.2106+43T>G ENSP00000267163.4:n.2106+43T>G
NM_000321.2:c.2106+43T>G , LRG_517t1:c.2106+43T>G NP_000312.2:n.2106+43T>G
XM_011535171.1:c.1845+43T>G XP_011533473.1:n.1845+43T>G
XM_011535171.2:c.1845+43T>G XP_011533473.1:n.1845+43T>G
NM_000321.3:c.2106+43T>G MANE Select NP_000312.2:n.2106+43T>G
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