Revel Score:
ENST00000374866 (MANE Select)
0.643
ENST00000452536
0.643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189035107T>A , CM000664.2:g.189035107T>A | GRCh38 |
| NC_000002.11:g.189899833T>A , CM000664.1:g.189899833T>A | GRCh37 |
| NC_000002.10:g.189608078T>A | NCBI36 |
| NG_011799.1:g.149773A>T | |
| NG_011799.2:g.149773A>T | |
| NG_011799.3:g.195195A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.4162A>T MANE Select | ENSP00000364000.3:p.Thr1388Ser | |
| ENST00000374866.7:c.4162A>T | ENSP00000364000.3:p.Thr1388Ser | |
| ENST00000618828.1:c.3001A>T | ENSP00000482184.1:p.Thr1001Ser | |
| NM_000393.3:c.4162A>T | NP_000384.2:p.Thr1388Ser | |
| XM_011510573.1:c.4024A>T | XP_011508875.1:p.Thr1342Ser | |
| NM_000393.4:c.4162A>T | NP_000384.2:p.Thr1388Ser | |
| XM_011510573.3:c.4024A>T | XP_011508875.1:p.Thr1342Ser | |
| NM_000393.5:c.4162A>T MANE Select | NP_000384.2:p.Thr1388Ser |