Canonical Allele Identifier: CA249841984
Gene: RB1-DT HGNC NCBI

Linked Data

dbSNP Id: rs920316163
gnomAD v3: 13-48303660-A-G
gnomAD v4: 13-48303660-A-G
MyVariant Identifiers: chr13:g.48877796A>G (hg19) chr13:g.48303660A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303660A>G , CM000675.2:g.48303660A>G GRCh38
NC_000013.10:g.48877796A>G , CM000675.1:g.48877796A>G GRCh37
NC_000013.9:g.47775797A>G NCBI36
NG_009009.1:g.4914A>G , LRG_517:g.4914A>G

Transcript Alleles

HGVS Amino-acid Change
NR_046414.1:n.2T>C
NR_046414.2:n.43T>C
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