Canonical Allele Identifier: CA388163584
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 945266
ClinVar RCV Id: RCV001215865
dbSNP Id: rs4151539
gnomAD v3: 13-48381322-C-T
gnomAD v4: 13-48381322-C-T
MyVariant Identifiers: chr13:g.48955458C>T (hg19) chr13:g.48381322C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48381322C>T , CM000675.2:g.48381322C>T GRCh38
NC_000013.10:g.48955458C>T , CM000675.1:g.48955458C>T GRCh37
NC_000013.9:g.47853459C>T NCBI36
NG_009009.1:g.82576C>T , LRG_517:g.82576C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1574C>T MANE Select ENSP00000267163.4:p.Ala525Val
ENST00000643064.1:c.73C>T
ENST00000650461.1:c.1574C>T ENSP00000497193.1:p.Ala525Val
ENST00000267163.4:c.1574C>T ENSP00000267163.4:p.Ala525Val
NM_000321.2:c.1574C>T , LRG_517t1:c.1574C>T NP_000312.2:p.Ala525Val
XM_011535171.1:c.1313C>T XP_011533473.1:p.Ala438Val
XM_011535171.2:c.1313C>T XP_011533473.1:p.Ala438Val
NM_000321.3:c.1574C>T MANE Select NP_000312.2:p.Ala525Val
Search 100 bp 5'
Search 100 bp 3'