Revel Score:
ENST00000271588 (MANE Select)
0.415
ENST00000367492
0.415
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186122951T>A , CM000663.2:g.186122951T>A | GRCh38 |
| NC_000001.10:g.186092083T>A , CM000663.1:g.186092083T>A | GRCh37 |
| NC_000001.9:g.184358706T>A | NCBI36 |
| NG_011841.1:g.393401T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.12230T>A MANE Select | ENSP00000271588.4:p.Val4077Asp | |
| ENST00000271588.8:c.12230T>A | ENSP00000271588.4:p.Val4077Asp | |
| NM_031935.2:c.12230T>A | NP_114141.2:p.Val4077Asp | |
| XM_011510037.1:c.11945T>A | XP_011508339.1:p.Val3982Asp | |
| XM_011510038.1:c.12230T>A | XP_011508340.1:p.Val4077Asp | |
| XM_011510039.1:c.12230T>A | XP_011508341.1:p.Val4077Asp | |
| XM_011510038.3:c.12230T>A | XP_011508340.1:p.Val4077Asp | |
| XM_017002437.1:c.10253T>A | XP_016857926.1:p.Val3418Asp | |
| NM_031935.3:c.12230T>A MANE Select | NP_114141.2:p.Val4077Asp |