Canonical Allele Identifier: CA249841989
Gene: RB1-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 2889662
ClinVar RCV Id: RCV003627150 RCV003966608
dbSNP Id: rs886631251
gnomAD v2: 13-48877815-C-G
gnomAD v3: 13-48303679-C-G
gnomAD v4: 13-48303679-C-G
MyVariant Identifiers: chr13:g.48877815C>G (hg19) chr13:g.48303679C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303679C>G , CM000675.2:g.48303679C>G GRCh38
NC_000013.10:g.48877815C>G , CM000675.1:g.48877815C>G GRCh37
NC_000013.9:g.47775816C>G NCBI36
NG_009009.1:g.4933C>G , LRG_517:g.4933C>G

Transcript Alleles

HGVS Amino-acid Change
NR_046414.2:n.24G>C
Search 100 bp 5'
Search 100 bp 3'