Canonical Allele Identifier: CA249841962

Gene: RB1-DT

Linked Data

• dbSNP Id: rs910449628
• gnomAD v4: 13-48303531-G-C
• MyVariant Identifiers: chr13:g.48877667G>C (hg19) ; chr13:g.48303531G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303531G>C , CM000675.2:g.48303531G>C	GRCh38
NC_000013.10:g.48877667G>C , CM000675.1:g.48877667G>C	GRCh37
NC_000013.9:g.47775668G>C	NCBI36
NG_009009.1:g.4785G>C , LRG_517:g.4785G>C

Transcript Alleles

HGVS	Amino-acid Change
NR_046414.1:n.131C>G
NR_046414.2:n.172C>G