Revel Score:
ENST00000374866 (MANE Select)
0.808
ENST00000452536
0.808
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189035106G>A , CM000664.2:g.189035106G>A | GRCh38 |
| NC_000002.11:g.189899832G>A , CM000664.1:g.189899832G>A | GRCh37 |
| NC_000002.10:g.189608077G>A | NCBI36 |
| NG_011799.1:g.149774C>T | |
| NG_011799.2:g.149774C>T | |
| NG_011799.3:g.195196C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.4163C>T MANE Select | ENSP00000364000.3:p.Thr1388Ile | |
| ENST00000374866.7:c.4163C>T | ENSP00000364000.3:p.Thr1388Ile | |
| ENST00000618828.1:c.3002C>T | ENSP00000482184.1:p.Thr1001Ile | |
| NM_000393.3:c.4163C>T | NP_000384.2:p.Thr1388Ile | |
| XM_011510573.1:c.4025C>T | XP_011508875.1:p.Thr1342Ile | |
| NM_000393.4:c.4163C>T | NP_000384.2:p.Thr1388Ile | |
| XM_011510573.3:c.4025C>T | XP_011508875.1:p.Thr1342Ile | |
| NM_000393.5:c.4163C>T MANE Select | NP_000384.2:p.Thr1388Ile |