Revel Score:
ENST00000539609
0.265
ENST00000303660
0.265
ENST00000409487
0.265
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144398632G>A , CM000664.2:g.144398632G>A | GRCh38 |
| NC_000002.11:g.145156199G>A , CM000664.1:g.145156199G>A | GRCh37 |
| NC_000002.10:g.144872669G>A | NCBI36 |
| NG_016431.1:g.126760C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*2404C>T | ENSP00000508434.1:n.*2404C>T | |
| ENST00000440875.6:c.1778C>T | ENSP00000475553.3:p.Ser593Leu | |
| ENST00000627532.3:c.2555C>T MANE Select | ENSP00000487174.1:p.Ser852Leu | |
| ENST00000636026.2:c.2555C>T | ENSP00000490776.1:p.Ser852Leu | |
| ENST00000636179.1:n.2524C>T | ||
| ENST00000636413.1:c.2219C>T | ENSP00000490508.1:p.Ser740Leu | |
| ENST00000636471.1:c.2630C>T | ENSP00000490317.1:p.Ser877Leu | |
| ENST00000636732.2:c.*2272C>T | ENSP00000490175.1:n.*2272C>T | |
| ENST00000636820.1:n.2655C>T | ||
| ENST00000637045.1:c.2219C>T | ENSP00000490141.1:p.Ser740Leu | |
| ENST00000637304.1:c.2219C>T | ENSP00000490872.1:p.Ser740Leu | |
| ENST00000638007.1:c.2219C>T | ENSP00000490723.1:p.Ser740Leu | |
| ENST00000638087.1:c.2219C>T | ENSP00000490673.1:p.Ser740Leu | |
| ENST00000638128.1:c.1778C>T | ENSP00000490934.1:p.Ser593Leu | |
| ENST00000675069.1:c.86C>T | ENSP00000502467.1:p.Ser29Leu | |
| ENST00000303660.8:c.2552C>T | ENSP00000302501.4:p.Ser851Leu | |
| ENST00000409487.7:c.2555C>T | ENSP00000386854.2:p.Ser852Leu | |
| ENST00000419938.5:c.655+2567C>T | ENSP00000394777.2:n.655+2567C>T | |
| ENST00000440875.5:c.1168-704C>T | ENSP00000475553.2:n.1168-704C>T | |
| ENST00000539609.7:c.2483C>T | ENSP00000443792.2:p.Ser828Leu | |
| ENST00000558170.6:c.2555C>T | ENSP00000454157.1:p.Ser852Leu | |
| ENST00000627532.2:c.2555C>T | ENSP00000487174.1:p.Ser852Leu | |
| NM_001171653.1:c.2483C>T | NP_001165124.1:p.Ser828Leu | |
| NM_014795.3:c.2555C>T | NP_055610.1:p.Ser852Leu | |
| XM_006712881.2:c.2555C>T | XP_006712944.1:p.Ser852Leu | |
| XM_006712882.2:c.2555C>T | XP_006712945.1:p.Ser852Leu | |
| XM_011512231.1:c.2546C>T | XP_011510533.1:p.Ser849Leu | |
| XM_011512232.1:c.2534C>T | XP_011510534.1:p.Ser845Leu | |
| NM_014795.4:c.2555C>T MANE Select | NP_055610.1:p.Ser852Leu | |
| NM_001171653.2:c.2483C>T | NP_001165124.1:p.Ser828Leu |