Canonical Allele Identifier: CA249842009
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3003796
ClinVar RCV Id: RCV003863371
dbSNP Id: rs977872909
gnomAD v2: 13-48877921-C-G
gnomAD v3: 13-48303785-C-G
gnomAD v4: 13-48303785-C-G
MyVariant Identifiers: chr13:g.48877921C>G (hg19) chr13:g.48303785C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303785C>G , CM000675.2:g.48303785C>G GRCh38
NC_000013.10:g.48877921C>G , CM000675.1:g.48877921C>G GRCh37
NC_000013.9:g.47775922C>G NCBI36
NG_009009.1:g.5039C>G , LRG_517:g.5039C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.-128C>G MANE Select ENSP00000267163.4:n.-128C>G
ENST00000646097.1:c.-128C>G ENSP00000496556.1:n.-128C>G
ENST00000650461.1:c.-128C>G ENSP00000497193.1:n.-128C>G
ENST00000267163.4:c.-128C>G ENSP00000267163.4:n.-128C>G
ENST00000467505.5:c.-128C>G ENSP00000434702.1:n.-128C>G
ENST00000525036.1:n.35C>G
NM_000321.2:c.-128C>G , LRG_517t1:c.-128C>G NP_000312.2:n.-128C>G
NM_000321.3:c.-128C>G MANE Select NP_000312.2:n.-128C>G
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