Revel Score:
ENST00000271588 (MANE Select)
0.868
ENST00000367492
0.868
ENST00000414277
0.868
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186174522G>A , CM000663.2:g.186174522G>A | GRCh38 |
| NC_000001.10:g.186143654G>A , CM000663.1:g.186143654G>A | GRCh37 |
| NC_000001.9:g.184410277G>A | NCBI36 |
| NG_011841.1:g.444972G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.15823G>A MANE Select | ENSP00000271588.4:p.Glu5275Lys | |
| ENST00000271588.8:c.15823G>A | ENSP00000271588.4:p.Glu5275Lys | |
| ENST00000414277.1:c.199G>A | ENSP00000406205.1:p.Glu67Lys | |
| NM_031935.2:c.15823G>A | NP_114141.2:p.Glu5275Lys | |
| XM_011510037.1:c.15538G>A | XP_011508339.1:p.Glu5180Lys | |
| XM_011510038.1:c.15823G>A | XP_011508340.1:p.Glu5275Lys | |
| XM_011510038.3:c.15823G>A | XP_011508340.1:p.Glu5275Lys | |
| XM_017002437.1:c.13846G>A | XP_016857926.1:p.Glu4616Lys | |
| NM_031935.3:c.15823G>A MANE Select | NP_114141.2:p.Glu5275Lys |