Canonical Allele Identifier: CA2622977029

Gene: RB1-DT

Linked Data

• dbSNP Id: rs2138025874
• gnomAD v4: 13-48303696-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303696C>T , CM000675.2:g.48303696C>T	GRCh38
NC_000013.10:g.48877832C>T , CM000675.1:g.48877832C>T	GRCh37
NC_000013.9:g.47775833C>T	NCBI36
NG_009009.1:g.4950C>T , LRG_517:g.4950C>T

Transcript Alleles

HGVS	Amino-acid Change
NR_046414.2:n.7G>A