Canonical Allele Identifier: CA698656240

Gene: RB1-DT

Linked Data

• dbSNP Id: rs1247021356
• gnomAD v4: 13-48303692-C-T
• MyVariant Identifiers: chr13:g.48877828C>T (hg19) ; chr13:g.48303692C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303692C>T , CM000675.2:g.48303692C>T	GRCh38
NC_000013.10:g.48877828C>T , CM000675.1:g.48877828C>T	GRCh37
NC_000013.9:g.47775829C>T	NCBI36
NG_009009.1:g.4946C>T , LRG_517:g.4946C>T

Transcript Alleles

HGVS	Amino-acid Change
NR_046414.2:n.11G>A