Revel Score:
ENST00000271588 (MANE Select)
0.813
ENST00000367492
0.813
ENST00000414277
0.813
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186174532A>T , CM000663.2:g.186174532A>T | GRCh38 |
| NC_000001.10:g.186143664A>T , CM000663.1:g.186143664A>T | GRCh37 |
| NC_000001.9:g.184410287A>T | NCBI36 |
| NG_011841.1:g.444982A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.15833A>T MANE Select | ENSP00000271588.4:p.Asp5278Val | |
| ENST00000271588.8:c.15833A>T | ENSP00000271588.4:p.Asp5278Val | |
| ENST00000414277.1:c.209A>T | ENSP00000406205.1:p.Asp70Val | |
| NM_031935.2:c.15833A>T | NP_114141.2:p.Asp5278Val | |
| XM_011510037.1:c.15548A>T | XP_011508339.1:p.Asp5183Val | |
| XM_011510038.1:c.15833A>T | XP_011508340.1:p.Asp5278Val | |
| XM_011510038.3:c.15833A>T | XP_011508340.1:p.Asp5278Val | |
| XM_017002437.1:c.13856A>T | XP_016857926.1:p.Asp4619Val | |
| NM_031935.3:c.15833A>T MANE Select | NP_114141.2:p.Asp5278Val |