Canonical Allele Identifier: CA483711499
Gene: RB1-DT HGNC NCBI

Linked Data

dbSNP Id: rs1472097498
gnomAD v3: 13-48303648-G-T
gnomAD v4: 13-48303648-G-T
MyVariant Identifiers: chr13:g.48877784G>T (hg19) chr13:g.48303648G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303648G>T , CM000675.2:g.48303648G>T GRCh38
NC_000013.10:g.48877784G>T , CM000675.1:g.48877784G>T GRCh37
NC_000013.9:g.47775785G>T NCBI36
NG_009009.1:g.4902G>T , LRG_517:g.4902G>T

Transcript Alleles

HGVS Amino-acid Change
NR_046414.1:n.14C>A
NR_046414.2:n.55C>A
Search 100 bp 5'
Search 100 bp 3'