Canonical Allele Identifier: CA249842006
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 997629
ClinVar RCV Id: RCV001292913 RCV002256730 RCV002462902 RCV003120538 RCV003462853
dbSNP Id: rs1014776340
gnomAD v3: 13-48303764-G-T
gnomAD v4: 13-48303764-G-T
MyVariant Identifiers: chr13:g.48877900G>T (hg19) chr13:g.48303764G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303764G>T , CM000675.2:g.48303764G>T GRCh38
NC_000013.10:g.48877900G>T , CM000675.1:g.48877900G>T GRCh37
NC_000013.9:g.47775901G>T NCBI36
NG_009009.1:g.5018G>T , LRG_517:g.5018G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.-149G>T MANE Select ENSP00000267163.4:n.-149G>T
ENST00000646097.1:c.-149G>T ENSP00000496556.1:n.-149G>T
ENST00000650461.1:c.-149G>T ENSP00000497193.1:n.-149G>T
ENST00000525036.1:n.14G>T
NM_000321.2:c.-149G>T , LRG_517t1:c.-149G>T NP_000312.2:n.-149G>T
NM_000321.3:c.-149G>T MANE Select NP_000312.2:n.-149G>T
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