Canonical Allele Identifier: CA483711068
Gene: RB1-DT HGNC NCBI

Linked Data

dbSNP Id: rs992918618
gnomAD v3: 13-48303551-C-G
gnomAD v4: 13-48303551-C-G
MyVariant Identifiers: chr13:g.48877687C>G (hg19) chr13:g.48303551C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303551C>G , CM000675.2:g.48303551C>G GRCh38
NC_000013.10:g.48877687C>G , CM000675.1:g.48877687C>G GRCh37
NC_000013.9:g.47775688C>G NCBI36
NG_009009.1:g.4805C>G , LRG_517:g.4805C>G

Transcript Alleles

HGVS Amino-acid Change
NR_046414.1:n.111G>C
NR_046414.2:n.152G>C
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