Canonical Allele Identifier: CA2089949509
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs1952048963
gnomAD v4: 13-48303750-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303750C>T , CM000675.2:g.48303750C>T GRCh38
NC_000013.10:g.48877886C>T , CM000675.1:g.48877886C>T GRCh37
NC_000013.9:g.47775887C>T NCBI36
NG_009009.1:g.5004C>T , LRG_517:g.5004C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000646097.1:c.-163C>T ENSP00000496556.1:n.-163C>T
ENST00000650461.1:c.-163C>T ENSP00000497193.1:n.-163C>T
NM_000321.2:c.-163C>T , LRG_517t1:c.-163C>T NP_000312.2:n.-163C>T
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