Linked Data
ClinVar Variation Id:
960463
ClinVar RCV Id:
RCV001233992
dbSNP Id:
rs781770369
ExAC:
2:145157400 T / C
gnomAD v2:
2-145157400-T-C
gnomAD v3:
2-144399833-T-C
gnomAD v4:
2-144399833-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144399833T>C , CM000664.2:g.144399833T>C | GRCh38 |
| NC_000002.11:g.145157400T>C , CM000664.1:g.145157400T>C | GRCh37 |
| NC_000002.10:g.144873870T>C | NCBI36 |
| NG_016431.1:g.125559A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*1203A>G | ENSP00000508434.1:n.*1203A>G | |
| ENST00000440875.6:c.577A>G | ENSP00000475553.3:p.Thr193Ala | |
| ENST00000627532.3:c.1354A>G MANE Select | ENSP00000487174.1:p.Thr452Ala | |
| ENST00000636026.2:c.1354A>G | ENSP00000490776.1:p.Thr452Ala | |
| ENST00000636179.1:n.1323A>G | ||
| ENST00000636413.1:c.1018A>G | ENSP00000490508.1:p.Thr340Ala | |
| ENST00000636471.1:c.1429A>G | ENSP00000490317.1:p.Thr477Ala | |
| ENST00000636732.2:c.*1071A>G | ENSP00000490175.1:n.*1071A>G | |
| ENST00000636820.1:n.1454A>G | ||
| ENST00000637045.1:c.1018A>G | ENSP00000490141.1:p.Thr340Ala | |
| ENST00000637267.2:c.1354A>G | ENSP00000490293.2:p.Thr452Ala | |
| ENST00000637304.1:c.1018A>G | ENSP00000490872.1:p.Thr340Ala | |
| ENST00000638007.1:c.1018A>G | ENSP00000490723.1:p.Thr340Ala | |
| ENST00000638087.1:c.1018A>G | ENSP00000490673.1:p.Thr340Ala | |
| ENST00000638128.1:c.577A>G | ENSP00000490934.1:p.Thr193Ala | |
| ENST00000675069.1:c.-133-983A>G | ENSP00000502467.1:n.-133-983A>G | |
| ENST00000675145.1:n.1902A>G | ||
| ENST00000303660.8:c.1351A>G | ENSP00000302501.4:p.Thr451Ala | |
| ENST00000409487.7:c.1354A>G | ENSP00000386854.2:p.Thr452Ala | |
| ENST00000419938.5:c.655+1366A>G | ENSP00000394777.2:n.655+1366A>G | |
| ENST00000427902.5:c.1441A>G | ENSP00000395496.2:p.Thr481Ala | |
| ENST00000440875.5:c.1153+186A>G | ENSP00000475553.2:n.1153+186A>G | |
| ENST00000539609.7:c.1282A>G | ENSP00000443792.2:p.Thr428Ala | |
| ENST00000558170.6:c.1354A>G | ENSP00000454157.1:p.Thr452Ala | |
| ENST00000627532.2:c.1354A>G | ENSP00000487174.1:p.Thr452Ala | |
| NM_001171653.1:c.1282A>G | NP_001165124.1:p.Thr428Ala | |
| NM_014795.3:c.1354A>G | NP_055610.1:p.Thr452Ala | |
| XM_006712881.2:c.1354A>G | XP_006712944.1:p.Thr452Ala | |
| XM_006712882.2:c.1354A>G | XP_006712945.1:p.Thr452Ala | |
| XM_011512231.1:c.1345A>G | XP_011510533.1:p.Thr449Ala | |
| XM_011512232.1:c.1333A>G | XP_011510534.1:p.Thr445Ala | |
| NM_014795.4:c.1354A>G MANE Select | NP_055610.1:p.Thr452Ala | |
| NM_001171653.2:c.1282A>G | NP_001165124.1:p.Thr428Ala |