Canonical Allele Identifier: CA249842010
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2907279
ClinVar RCV Id: RCV003627375
dbSNP Id: rs938037004
gnomAD v3: 13-48303787-C-T
gnomAD v4: 13-48303787-C-T
MyVariant Identifiers: chr13:g.48877923C>T (hg19) chr13:g.48303787C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303787C>T , CM000675.2:g.48303787C>T GRCh38
NC_000013.10:g.48877923C>T , CM000675.1:g.48877923C>T GRCh37
NC_000013.9:g.47775924C>T NCBI36
NG_009009.1:g.5041C>T , LRG_517:g.5041C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.-126C>T MANE Select ENSP00000267163.4:n.-126C>T
ENST00000646097.1:c.-126C>T ENSP00000496556.1:n.-126C>T
ENST00000650461.1:c.-126C>T ENSP00000497193.1:n.-126C>T
ENST00000267163.4:c.-126C>T ENSP00000267163.4:n.-126C>T
ENST00000467505.5:c.-126C>T ENSP00000434702.1:n.-126C>T
ENST00000525036.1:n.37C>T
NM_000321.2:c.-126C>T , LRG_517t1:c.-126C>T NP_000312.2:n.-126C>T
NM_000321.3:c.-126C>T MANE Select NP_000312.2:n.-126C>T
Search 100 bp 5'
Search 100 bp 3'