Linked Data
dbSNP Id:
rs747347956
ExAC:
2:145157376 C / A
gnomAD v2:
2-145157376-C-A
gnomAD v4:
2-144399809-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144399809C>A , CM000664.2:g.144399809C>A | GRCh38 |
| NC_000002.11:g.145157376C>A , CM000664.1:g.145157376C>A | GRCh37 |
| NC_000002.10:g.144873846C>A | NCBI36 |
| NG_016431.1:g.125583G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*1227G>T | ENSP00000508434.1:n.*1227G>T | |
| ENST00000440875.6:c.601G>T | ENSP00000475553.3:p.Val201Leu | |
| ENST00000627532.3:c.1378G>T MANE Select | ENSP00000487174.1:p.Val460Leu | |
| ENST00000636026.2:c.1378G>T | ENSP00000490776.1:p.Val460Leu | |
| ENST00000636179.1:n.1347G>T | ||
| ENST00000636413.1:c.1042G>T | ENSP00000490508.1:p.Val348Leu | |
| ENST00000636471.1:c.1453G>T | ENSP00000490317.1:p.Val485Leu | |
| ENST00000636732.2:c.*1095G>T | ENSP00000490175.1:n.*1095G>T | |
| ENST00000636820.1:n.1478G>T | ||
| ENST00000637045.1:c.1042G>T | ENSP00000490141.1:p.Val348Leu | |
| ENST00000637267.2:c.1378G>T | ENSP00000490293.2:p.Val460Leu | |
| ENST00000637304.1:c.1042G>T | ENSP00000490872.1:p.Val348Leu | |
| ENST00000638007.1:c.1042G>T | ENSP00000490723.1:p.Val348Leu | |
| ENST00000638087.1:c.1042G>T | ENSP00000490673.1:p.Val348Leu | |
| ENST00000638128.1:c.601G>T | ENSP00000490934.1:p.Val201Leu | |
| ENST00000675069.1:c.-133-959G>T | ENSP00000502467.1:n.-133-959G>T | |
| ENST00000675145.1:n.1926G>T | ||
| ENST00000303660.8:c.1375G>T | ENSP00000302501.4:p.Val459Leu | |
| ENST00000409487.7:c.1378G>T | ENSP00000386854.2:p.Val460Leu | |
| ENST00000419938.5:c.655+1390G>T | ENSP00000394777.2:n.655+1390G>T | |
| ENST00000427902.5:c.1465G>T | ENSP00000395496.2:p.Val489Leu | |
| ENST00000440875.5:c.1153+210G>T | ENSP00000475553.2:n.1153+210G>T | |
| ENST00000539609.7:c.1306G>T | ENSP00000443792.2:p.Val436Leu | |
| ENST00000558170.6:c.1378G>T | ENSP00000454157.1:p.Val460Leu | |
| ENST00000627532.2:c.1378G>T | ENSP00000487174.1:p.Val460Leu | |
| NM_001171653.1:c.1306G>T | NP_001165124.1:p.Val436Leu | |
| NM_014795.3:c.1378G>T | NP_055610.1:p.Val460Leu | |
| XM_006712881.2:c.1378G>T | XP_006712944.1:p.Val460Leu | |
| XM_006712882.2:c.1378G>T | XP_006712945.1:p.Val460Leu | |
| XM_011512231.1:c.1369G>T | XP_011510533.1:p.Val457Leu | |
| XM_011512232.1:c.1357G>T | XP_011510534.1:p.Val453Leu | |
| NM_014795.4:c.1378G>T MANE Select | NP_055610.1:p.Val460Leu | |
| NM_001171653.2:c.1306G>T | NP_001165124.1:p.Val436Leu |