Revel Score:
ENST00000406846 (MANE Select)
0.800
ENST00000304421
0.800
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48968881T>A , CM000664.2:g.48968881T>A | GRCh38 |
| NC_000002.11:g.49196020T>A , CM000664.1:g.49196020T>A | GRCh37 |
| NC_000002.10:g.49049524T>A | NCBI36 |
| NG_008146.1:g.190611A>T , LRG_536:g.190611A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406846.7:c.671A>T MANE Select | ENSP00000384708.2:p.Asp224Val | |
| ENST00000304421.8:c.593A>T | ENSP00000306780.4:p.Asp198Val | |
| ENST00000406846.6:c.671A>T | ENSP00000384708.2:p.Asp224Val | |
| ENST00000454032.5:c.669-4915A>T | ENSP00000415504.1:n.669-4915A>T | |
| ENST00000469138.5:n.432A>T | ||
| NM_000145.3:c.671A>T , LRG_536t1:c.671A>T | NP_000136.2:p.Asp224Val | |
| NM_181446.2:c.593A>T | NP_852111.2:p.Asp198Val | |
| XM_011532733.1:c.773A>T | XP_011531035.1:p.Asp258Val | |
| XM_011532734.1:c.440A>T | XP_011531036.1:p.Asp147Val | |
| XM_011532735.1:c.-122A>T | XP_011531037.1:n.-122A>T | |
| XM_011532736.1:c.-122A>T | XP_011531038.1:n.-122A>T | |
| XM_011532737.1:c.773A>T | XP_011531039.1:p.Asp258Val | |
| XM_011532738.1:c.773A>T | XP_011531040.1:p.Asp258Val | |
| XM_011532739.1:c.773A>T | XP_011531041.1:p.Asp258Val | |
| XM_011532740.1:c.773A>T | XP_011531042.1:p.Asp258Val | |
| XM_011532733.2:c.773A>T | XP_011531035.1:p.Asp258Val | |
| XM_011532734.2:c.440A>T | XP_011531036.1:p.Asp147Val | |
| XM_011532735.2:c.-122A>T | XP_011531037.1:n.-122A>T | |
| XM_011532736.2:c.-122A>T | XP_011531038.1:n.-122A>T | |
| NM_000145.4:c.671A>T MANE Select | NP_000136.2:p.Asp224Val | |
| NM_181446.3:c.593A>T | NP_852111.2:p.Asp198Val |