Canonical Allele Identifier: CA036418
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 416501
ClinVar RCV Id: RCV000458320 RCV001016182
dbSNP Id: rs750293921
ExAC: 13:49050950 T / C
gnomAD v2: 13-49050950-T-C
gnomAD v3: 13-48476814-T-C
gnomAD v4: 13-48476814-T-C
MyVariant Identifiers: chr13:g.49050950T>C (hg19) chr13:g.48476814T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48476814T>C , CM000675.2:g.48476814T>C GRCh38
NC_000013.10:g.49050950T>C , CM000675.1:g.49050950T>C GRCh37
NC_000013.9:g.47948951T>C NCBI36
NG_009009.1:g.178068T>C , LRG_517:g.178068T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2634T>C MANE Select ENSP00000267163.4:p.Asp878=
ENST00000643064.1:c.194+95371T>C
ENST00000650461.1:c.2634T>C ENSP00000497193.1:p.Asp878=
ENST00000267163.4:c.2634T>C ENSP00000267163.4:p.Asp878=
ENST00000484879.1:n.368T>C
ENST00000531171.5:n.237T>C
NM_000321.2:c.2634T>C , LRG_517t1:c.2634T>C NP_000312.2:p.Asp878=
XM_011535171.1:c.2373T>C XP_011533473.1:p.Asp791=
XM_011535171.2:c.2373T>C XP_011533473.1:p.Asp791=
NM_000321.3:c.2634T>C MANE Select NP_000312.2:p.Asp878=
Search 100 bp 5'
Search 100 bp 3'