Revel Score:
ENST00000423676 (MANE Select)
0.019
ENST00000324290
0.019
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000393 (NFE)
Genomes Max Group AF
0.00000679 (NFE)
Exomes Max Group AF
0.00000283 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.20451816G>A , CM000679.2:g.20451816G>A | GRCh38 |
| NC_000017.10:g.20355129G>A , CM000679.1:g.20355129G>A | GRCh37 |
| NC_000017.9:g.20295721G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423676.8:c.740C>T MANE Select | ENSP00000388841.3:p.Thr247Ile | |
| ENST00000324290.5:c.737C>T | ENSP00000315564.5:p.Thr246Ile | |
| ENST00000423676.7:c.740C>T | ENSP00000388841.3:p.Thr247Ile | |
| ENST00000578481.5:c.*540C>T | ENSP00000464627.1:n.*540C>T | |
| ENST00000578724.1:n.356C>T | ||
| NM_001042685.1:c.737C>T | NP_001036150.1:p.Thr246Ile | |
| XM_006721505.2:c.740C>T | XP_006721568.2:p.Thr247Ile | |
| XM_011523799.1:c.716C>T | XP_011522101.1:p.Thr239Ile | |
| XM_011523800.1:c.644C>T | XP_011522102.1:p.Thr215Ile | |
| XM_011523801.1:c.641C>T | XP_011522103.1:p.Thr214Ile | |
| XM_011523802.1:c.608C>T | XP_011522104.1:p.Thr203Ile | |
| XM_011523803.1:c.605C>T | XP_011522105.1:p.Thr202Ile | |
| XM_011523804.1:c.740C>T | XP_011522106.1:p.Thr247Ile | |
| XM_011523805.1:c.740C>T | XP_011522107.1:p.Thr247Ile | |
| XM_011523806.1:c.737C>T | XP_011522108.1:p.Thr246Ile | |
| XM_011523807.1:c.740C>T | XP_011522109.1:p.Thr247Ile | |
| XM_011523808.1:c.476C>T | XP_011522110.1:p.Thr159Ile | |
| XM_011523809.1:c.431C>T | XP_011522111.1:p.Thr144Ile | |
| NM_001042685.2:c.737C>T | NP_001036150.1:p.Thr246Ile | |
| NM_001367292.1:c.740C>T | NP_001354221.1:p.Thr247Ile | |
| NM_001042685.3:c.737C>T | NP_001036150.1:p.Thr246Ile | |
| NM_001367292.2:c.740C>T MANE Select | NP_001354221.1:p.Thr247Ile |