Revel Score:
ENST00000406846 (MANE Select)
0.828
ENST00000346173
0.828
ENST00000304421
0.828
ENST00000541117
0.828
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48963475G>A , CM000664.2:g.48963475G>A | GRCh38 |
| NC_000002.11:g.49190614G>A , CM000664.1:g.49190614G>A | GRCh37 |
| NC_000002.10:g.49044118G>A | NCBI36 |
| NG_008146.1:g.196017C>T , LRG_536:g.196017C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406846.7:c.1346C>T MANE Select | ENSP00000384708.2:p.Thr449Ile | |
| ENST00000304421.8:c.1268C>T | ENSP00000306780.4:p.Thr423Ile | |
| ENST00000406846.6:c.1346C>T | ENSP00000384708.2:p.Thr449Ile | |
| NM_000145.3:c.1346C>T , LRG_536t1:c.1346C>T | NP_000136.2:p.Thr449Ile | |
| NM_181446.2:c.1268C>T | NP_852111.2:p.Thr423Ile | |
| XM_011532733.1:c.1448C>T | XP_011531035.1:p.Thr483Ile | |
| XM_011532734.1:c.1115C>T | XP_011531036.1:p.Thr372Ile | |
| XM_011532735.1:c.554C>T | XP_011531037.1:p.Thr185Ile | |
| XM_011532736.1:c.554C>T | XP_011531038.1:p.Thr185Ile | |
| XM_011532737.1:c.956+5223C>T | XP_011531039.1:n.956+5223C>T | |
| XM_011532738.1:c.956+5223C>T | XP_011531040.1:n.956+5223C>T | |
| XM_011532739.1:c.956+5223C>T | XP_011531041.1:n.956+5223C>T | |
| XM_011532733.2:c.1448C>T | XP_011531035.1:p.Thr483Ile | |
| XM_011532734.2:c.1115C>T | XP_011531036.1:p.Thr372Ile | |
| XM_011532735.2:c.554C>T | XP_011531037.1:p.Thr185Ile | |
| XM_011532736.2:c.554C>T | XP_011531038.1:p.Thr185Ile | |
| NM_000145.4:c.1346C>T MANE Select | NP_000136.2:p.Thr449Ile | |
| NM_181446.3:c.1268C>T | NP_852111.2:p.Thr423Ile |