Linked Data
ClinVar Variation Id:
126407
dbSNP Id:
rs515726141
ExAC:
20:35532654 T / C
gnomAD v2:
20-35532654-T-C
gnomAD v3:
20-36904251-T-C
gnomAD v4:
20-36904251-T-C
PubMed:
PMID:20301648
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.36904251T>C , CM000682.2:g.36904251T>C | GRCh38 |
| NC_000020.10:g.35532654T>C , CM000682.1:g.35532654T>C | GRCh37 |
| NC_000020.9:g.34966068T>C | NCBI36 |
| NG_017059.1:g.52593A>G , LRG_281:g.52593A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644114.2:c.1271-5707A>G | ENSP00000494354.2:n.1271-5707A>G | |
| ENST00000644250.2:c.1411-2A>G | ENSP00000493810.2:n.1411-2A>G | |
| ENST00000644688.2:n.1473-2A>G | ||
| ENST00000645444.2:c.*2827A>G | ENSP00000495381.2:n.*2827A>G | |
| ENST00000682773.1:c.1411-2A>G | ENSP00000507178.1:n.1411-2A>G | |
| ENST00000683720.1:c.1449-2A>G | ENSP00000508219.1:n.1449-2A>G | |
| ENST00000683766.1:c.1411-2A>G | ENSP00000506877.1:n.1411-2A>G | |
| ENST00000262878.5:c.1411-2A>G | ENSP00000262878.5:n.1411-2A>G | |
| ENST00000465985.2:c.32-2A>G | ||
| ENST00000642186.1:c.*1715-2A>G | ENSP00000494436.1:n.*1715-2A>G | |
| ENST00000642246.1:c.*1090-2A>G | ENSP00000494979.1:n.*1090-2A>G | |
| ENST00000643825.1:c.34-2A>G | ENSP00000495448.1:n.34-2A>G | |
| ENST00000643918.1:c.1411-2A>G | ENSP00000493928.1:n.1411-2A>G | |
| ENST00000644114.1:c.1197-5707A>G | ||
| ENST00000644688.1:n.724-2A>G | ||
| ENST00000645033.1:c.*588-2A>G | ENSP00000494520.1:n.*588-2A>G | |
| ENST00000645444.1:c.3465A>G | ||
| ENST00000646066.1:c.1201-2A>G | ENSP00000495432.1:n.1201-2A>G | |
| ENST00000646673.2:c.1411-2A>G MANE Select | ENSP00000493536.2:n.1411-2A>G | |
| ENST00000646869.1:c.1411-2A>G | ENSP00000495667.1:n.1411-2A>G | |
| ENST00000646904.1:c.*617-2A>G | ENSP00000494823.1:n.*617-2A>G | |
| ENST00000647095.1:n.2609-2A>G | ||
| ENST00000647163.1:c.*588-2A>G | ENSP00000494313.1:n.*588-2A>G | |
| ENST00000647459.1:n.2565-2A>G | ||
| ENST00000262878.4:c.1411-2A>G | ENSP00000262878.4:n.1411-2A>G | |
| ENST00000465985.1:n.32-2A>G | ||
| NM_015474.3:c.1411-2A>G , LRG_281t1:c.1411-2A>G | NP_056289.2:n.1411-2A>G | |
| XM_005260384.2:c.1411-2A>G | XP_005260441.1:n.1411-2A>G | |
| XM_011528761.1:c.1411-2A>G | XP_011527063.1:n.1411-2A>G | |
| NM_001363729.1:c.1411-2A>G | NP_001350658.1:n.1411-2A>G | |
| NM_001363733.1:c.1411-2A>G | NP_001350662.1:n.1411-2A>G | |
| NM_001363729.2:c.1411-2A>G | NP_001350658.1:n.1411-2A>G | |
| NM_001363733.2:c.1411-2A>G | NP_001350662.1:n.1411-2A>G | |
| NM_015474.4:c.1411-2A>G MANE Select | NP_056289.2:n.1411-2A>G |