Revel Score:
ENST00000541682 (MANE Select)
0.776
ENST00000317814
0.776
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8122397T>C , CM000679.2:g.8122397T>C | GRCh38 |
| NC_000017.10:g.8025715T>C , CM000679.1:g.8025715T>C | GRCh37 |
| NC_000017.9:g.7966440T>C | NCBI36 |
| NG_015807.1:g.1520A>G | |
| NG_015816.1:g.6696A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541682.7:c.172A>G MANE Select | ENSP00000446205.2:p.Ile58Val | |
| ENST00000317814.8:c.172A>G | ENSP00000314774.4:p.Ile58Val | |
| ENST00000541682.6:c.172A>G | ENSP00000446205.2:p.Ile58Val | |
| ENST00000577735.1:c.148A>G | ENSP00000462491.1:p.Ile50Val | |
| NM_001165967.1:c.172A>G | NP_001159439.1:p.Ile58Val | |
| NM_032580.3:c.172A>G | NP_115969.2:p.Ile58Val | |
| XM_011524038.1:c.277A>G | XP_011522340.1:p.Ile93Val | |
| XM_011524039.1:c.268A>G | XP_011522341.1:p.Ile90Val | |
| XM_011524040.1:c.268A>G | XP_011522342.1:p.Ile90Val | |
| XM_011524041.1:c.259A>G | XP_011522343.1:p.Ile87Val | |
| XM_011524042.1:c.130A>G | XP_011522344.1:p.Ile44Val | |
| XR_934203.1:n.69+2583T>C | ||
| XM_017025232.1:c.277A>G | XP_016880721.1:p.Ile93Val | |
| XM_024451007.1:c.277A>G | XP_024306775.1:p.Ile93Val | |
| NM_001165967.2:c.172A>G MANE Select | NP_001159439.1:p.Ile58Val | |
| NM_032580.4:c.172A>G | NP_115969.2:p.Ile58Val |