Revel Score:
ENST00000262340 (MANE Select)
0.734
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68446723T>C , CM000663.2:g.68446723T>C | GRCh38 |
| NC_000001.10:g.68912406T>C , CM000663.1:g.68912406T>C | GRCh37 |
| NC_000001.9:g.68684994T>C | NCBI36 |
| NG_008472.1:g.8237A>G | |
| NG_008472.2:g.8237A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.232A>G MANE Select | ENSP00000262340.5:p.Thr78Ala | |
| ENST00000262340.5:c.232A>G | ENSP00000262340.5:p.Thr78Ala | |
| NM_000329.2:c.232A>G | NP_000320.1:p.Thr78Ala | |
| XM_017002027.1:c.-31-1840A>G | XP_016857516.1:n.-31-1840A>G | |
| NM_000329.3:c.232A>G MANE Select | NP_000320.1:p.Thr78Ala |