Canonical Allele Identifier: CA249841963
Gene: RB1-DT HGNC NCBI

Linked Data

dbSNP Id: rs960365176
gnomAD v4: 13-48303533-T-G
MyVariant Identifiers: chr13:g.48877669T>G (hg19) chr13:g.48303533T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303533T>G , CM000675.2:g.48303533T>G GRCh38
NC_000013.10:g.48877669T>G , CM000675.1:g.48877669T>G GRCh37
NC_000013.9:g.47775670T>G NCBI36
NG_009009.1:g.4787T>G , LRG_517:g.4787T>G

Transcript Alleles

HGVS Amino-acid Change
NR_046414.1:n.129A>C
NR_046414.2:n.170A>C
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