Canonical Allele Identifier: CA483711269
Gene: RB1-DT HGNC NCBI

Linked Data

dbSNP Id: rs1328866390
gnomAD v2: 13-48877719-C-T
gnomAD v3: 13-48303583-C-T
gnomAD v4: 13-48303583-C-T
COSMIC: COSN15656777
MyVariant Identifiers: chr13:g.48877719C>T (hg19) chr13:g.48303583C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303583C>T , CM000675.2:g.48303583C>T GRCh38
NC_000013.10:g.48877719C>T , CM000675.1:g.48877719C>T GRCh37
NC_000013.9:g.47775720C>T NCBI36
NG_009009.1:g.4837C>T , LRG_517:g.4837C>T

Transcript Alleles

HGVS Amino-acid Change
NR_046414.1:n.79G>A
NR_046414.2:n.120G>A
Search 100 bp 5'
Search 100 bp 3'