Revel Score:
ENST00000304414 (MANE Select)
0.083
ENST00000545430
0.083
ENST00000546206
0.083
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.18794602T>A , CM000678.2:g.18794602T>A | GRCh38 |
| NC_000016.9:g.18805924T>A , CM000678.1:g.18805924T>A | GRCh37 |
| NC_000016.8:g.18713425T>A | NCBI36 |
| NG_042860.1:g.12077A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304414.12:c.490A>T MANE Select | ENSP00000306788.7:p.Ile164Leu | |
| ENST00000304414.11:c.490A>T | ENSP00000306788.7:p.Ile164Leu | |
| ENST00000546206.6:c.403A>T | ENSP00000440048.2:p.Ile135Leu | |
| ENST00000562819.5:c.149-1232A>T | ENSP00000457372.1:n.149-1232A>T | |
| ENST00000563861.5:c.*72A>T | ENSP00000456596.1:n.*72A>T | |
| ENST00000567078.2:c.490A>T | ENSP00000454746.2:p.Ile164Leu | |
| NM_001313858.1:c.403A>T | NP_001300787.1:p.Ile135Leu | |
| NM_015161.1:c.490A>T | NP_055976.1:p.Ile164Leu | |
| NM_015161.2:c.490A>T | NP_055976.1:p.Ile164Leu | |
| NM_015161.3:c.490A>T MANE Select | NP_055976.1:p.Ile164Leu |