Revel Score:
ENST00000228841 (MANE Select)
0.648
ENST00000548438
0.648
ENST00000550439
0.648
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110914221G>T , CM000674.2:g.110914221G>T | GRCh38 |
| NC_000012.11:g.111352025G>T , CM000674.1:g.111352025G>T | GRCh37 |
| NC_000012.10:g.109836408G>T | NCBI36 |
| NG_007554.1:g.11357C>A , LRG_393:g.11357C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.239C>A MANE Select | ENSP00000228841.8:p.Thr80Asn | |
| ENST00000663220.1:c.182C>A | ENSP00000499568.1:p.Thr61Asn | |
| ENST00000228841.12:c.239C>A | ENSP00000228841.7:p.Thr80Asn | |
| ENST00000548438.1:c.197C>A | ENSP00000447154.1:p.Thr66Asn | |
| ENST00000549029.1:n.70C>A | ||
| NM_000432.3:c.239C>A , LRG_393t1:c.239C>A | NP_000423.2:p.Thr80Asn | |
| NM_000432.4:c.239C>A MANE Select | NP_000423.2:p.Thr80Asn |