Linked Data
ClinVar Variation Id:
4071
ClinVar RCV Id:
RCV000004286
dbSNP Id:
rs121434519
ExAC:
20:35526329 G / A
gnomAD v2:
20-35526329-G-A
gnomAD v3:
20-36897926-G-A
gnomAD v4:
20-36897926-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.36897926G>A , CM000682.2:g.36897926G>A | GRCh38 |
| NC_000020.10:g.35526329G>A , CM000682.1:g.35526329G>A | GRCh37 |
| NC_000020.9:g.34959743G>A | NCBI36 |
| NG_017059.1:g.58918C>T , LRG_281:g.58918C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644114.2:c.1409C>T | ENSP00000494354.2:n.1409C>T | |
| ENST00000644250.2:c.1537C>T | ENSP00000493810.2:p.Gln513Ter | |
| ENST00000682773.1:c.1642C>T | ENSP00000507178.1:p.Gln548Ter | |
| ENST00000683720.1:c.1680C>T | ENSP00000508219.1:n.1680C>T | |
| ENST00000683766.1:c.1642C>T | ENSP00000506877.1:p.Gln548Ter | |
| ENST00000262878.5:c.1537C>T | ENSP00000262878.5:p.Gln513Ter | |
| ENST00000465985.2:c.158C>T | ||
| ENST00000642186.1:c.*1946C>T | ENSP00000494436.1:n.*1946C>T | |
| ENST00000642246.1:c.*1321C>T | ENSP00000494979.1:n.*1321C>T | |
| ENST00000643825.1:c.265C>T | ENSP00000495448.1:p.Gln89Ter | |
| ENST00000643918.1:c.1642C>T | ENSP00000493928.1:p.Gln548Ter | |
| ENST00000644114.1:c.1335C>T | ||
| ENST00000645033.1:c.*819C>T | ENSP00000494520.1:n.*819C>T | |
| ENST00000646066.1:c.1432C>T | ENSP00000495432.1:p.Gln478Ter | |
| ENST00000646673.2:c.1642C>T MANE Select | ENSP00000493536.2:p.Gln548Ter | |
| ENST00000646869.1:c.1642C>T | ENSP00000495667.1:p.Gln548Ter | |
| ENST00000646904.1:c.*848C>T | ENSP00000494823.1:n.*848C>T | |
| ENST00000647095.1:n.2840C>T | ||
| ENST00000647163.1:c.*819C>T | ENSP00000494313.1:n.*819C>T | |
| ENST00000647459.1:n.2691C>T | ||
| ENST00000262878.4:c.1642C>T | ENSP00000262878.4:p.Gln548Ter | |
| ENST00000465985.1:n.158C>T | ||
| NM_015474.3:c.1642C>T , LRG_281t1:c.1642C>T | NP_056289.2:p.Gln548Ter | |
| XM_005260384.2:c.1537C>T | XP_005260441.1:p.Gln513Ter | |
| XM_011528761.1:c.1642C>T | XP_011527063.1:p.Gln548Ter | |
| NM_001363729.1:c.1537C>T | NP_001350658.1:p.Gln513Ter | |
| NM_001363733.1:c.1642C>T | NP_001350662.1:p.Gln548Ter | |
| NM_001363729.2:c.1537C>T | NP_001350658.1:p.Gln513Ter | |
| NM_001363733.2:c.1642C>T | NP_001350662.1:p.Gln548Ter | |
| NM_015474.4:c.1642C>T MANE Select | NP_056289.2:p.Gln548Ter |