Canonical Allele Identifier: CA249841994
Gene: RB1-DT HGNC NCBI

Linked Data

dbSNP Id: rs1040245976
gnomAD v2: 13-48877831-G-A
gnomAD v3: 13-48303695-G-A
gnomAD v4: 13-48303695-G-A
MyVariant Identifiers: chr13:g.48877831G>A (hg19) chr13:g.48303695G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303695G>A , CM000675.2:g.48303695G>A GRCh38
NC_000013.10:g.48877831G>A , CM000675.1:g.48877831G>A GRCh37
NC_000013.9:g.47775832G>A NCBI36
NG_009009.1:g.4949G>A , LRG_517:g.4949G>A

Transcript Alleles

HGVS Amino-acid Change
NR_046414.2:n.8C>T
Search 100 bp 5'
Search 100 bp 3'