Canonical Allele Identifier: CA13812211
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1261281
ClinVar RCV Id: RCV001671682
dbSNP Id: rs2252544
gnomAD v2: 13-48878292-G-A
gnomAD v3: 13-48304156-G-A
gnomAD v4: 13-48304156-G-A
MyVariant Identifiers: chr13:g.48878292G>A (hg19) chr13:g.48304156G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48304156G>A , CM000675.2:g.48304156G>A GRCh38
NC_000013.10:g.48878292G>A , CM000675.1:g.48878292G>A GRCh37
NC_000013.9:g.47776293G>A NCBI36
NG_009009.1:g.5410G>A , LRG_517:g.5410G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.137+107G>A MANE Select ENSP00000267163.4:n.137+107G>A
ENST00000646097.1:c.137+107G>A ENSP00000496556.1:n.137+107G>A
ENST00000650461.1:c.137+107G>A ENSP00000497193.1:n.137+107G>A
ENST00000267163.4:c.137+107G>A ENSP00000267163.4:n.137+107G>A
ENST00000467505.5:c.137+107G>A ENSP00000434702.1:n.137+107G>A
ENST00000525036.1:n.299+107G>A
NM_000321.2:c.137+107G>A , LRG_517t1:c.137+107G>A NP_000312.2:n.137+107G>A
NM_000321.3:c.137+107G>A MANE Select NP_000312.2:n.137+107G>A
Search 100 bp 5'
Search 100 bp 3'