Revel Score:
ENST00000370647
0.727
ENST00000370646 (MANE Select)
0.727
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00004368 (SAS)
Exomes Max Group AF
0.00004579 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97611514C>G , CM000672.2:g.97611514C>G | GRCh38 |
| NC_000010.10:g.99371271C>G , CM000672.1:g.99371271C>G | GRCh37 |
| NC_000010.9:g.99361261C>G | NCBI36 |
| NG_027922.1:g.32170C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370646.9:c.839C>G MANE Select | ENSP00000359680.4:p.Thr280Ser | |
| ENST00000370646.8:c.839C>G | ENSP00000359680.4:p.Thr280Ser | |
| ENST00000370647.8:c.350C>G | ENSP00000359681.4:p.Thr117Ser | |
| ENST00000370649.3:c.345+9524C>G | ENSP00000359683.3:n.345+9524C>G | |
| NM_001134670.1:c.350C>G | NP_001128142.1:p.Thr117Ser | |
| NM_138413.3:c.839C>G | NP_612422.2:p.Thr280Ser | |
| NM_138413.4:c.839C>G MANE Select | NP_612422.2:p.Thr280Ser | |
| NM_001134670.2:c.350C>G | NP_001128142.1:p.Thr117Ser |