Canonical Allele Identifier: CA027691
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 312288
ClinVar RCV Id: RCV000330255 RCV000569762 RCV000614338
dbSNP Id: rs117865557
ExAC: 13:48947553 C / T
gnomAD v2: 13-48947553-C-T
gnomAD v3: 13-48373417-C-T
gnomAD v4: 13-48373417-C-T
MyVariant Identifiers: chr13:g.48947553C>T (hg19) chr13:g.48373417C>T (hg38)
PubMed: PMID:23532519
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48373417C>T , CM000675.2:g.48373417C>T GRCh38
NC_000013.10:g.48947553C>T , CM000675.1:g.48947553C>T GRCh37
NC_000013.9:g.47845554C>T NCBI36
NG_009009.1:g.74671C>T , LRG_517:g.74671C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1140C>T MANE Select ENSP00000267163.4:p.Asn380=
ENST00000650461.1:c.1140C>T ENSP00000497193.1:p.Asn380=
ENST00000267163.4:c.1140C>T ENSP00000267163.4:p.Asn380=
NM_000321.2:c.1140C>T , LRG_517t1:c.1140C>T NP_000312.2:p.Asn380=
XM_011535171.1:c.879C>T XP_011533473.1:p.Asn293=
XM_011535171.2:c.879C>T XP_011533473.1:p.Asn293=
XR_002957522.1:n.121+743G>A
NM_000321.3:c.1140C>T MANE Select NP_000312.2:p.Asn380=
Search 100 bp 5'
Search 100 bp 3'