Canonical Allele Identifier: CA249841976

Gene: RB1-DT

Linked Data

• dbSNP Id: rs936360616
• gnomAD v2: 13-48877780-C-A
• gnomAD v3: 13-48303644-C-A
• gnomAD v4: 13-48303644-C-A
• MyVariant Identifiers: chr13:g.48877780C>A (hg19) ; chr13:g.48303644C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303644C>A , CM000675.2:g.48303644C>A	GRCh38
NC_000013.10:g.48877780C>A , CM000675.1:g.48877780C>A	GRCh37
NC_000013.9:g.47775781C>A	NCBI36
NG_009009.1:g.4898C>A , LRG_517:g.4898C>A

Transcript Alleles

HGVS	Amino-acid Change
NR_046414.1:n.18G>T
NR_046414.2:n.59G>T