Revel Score:
ENST00000541682 (MANE Select)
0.903
ENST00000317814
0.903
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8123096G>A , CM000679.2:g.8123096G>A | GRCh38 |
| NC_000017.10:g.8026414G>A , CM000679.1:g.8026414G>A | GRCh37 |
| NC_000017.9:g.7967139G>A | NCBI36 |
| NG_015807.1:g.821C>T | |
| NG_015816.1:g.5997C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541682.7:c.73C>T MANE Select | ENSP00000446205.2:p.Arg25Trp | |
| ENST00000317814.8:c.73C>T | ENSP00000314774.4:p.Arg25Trp | |
| ENST00000541682.6:c.73C>T | ENSP00000446205.2:p.Arg25Trp | |
| ENST00000577735.1:c.49C>T | ENSP00000462491.1:p.Arg17Trp | |
| NM_001165967.1:c.73C>T | NP_001159439.1:p.Arg25Trp | |
| NM_032580.3:c.73C>T | NP_115969.2:p.Arg25Trp | |
| XM_011524038.1:c.178C>T | XP_011522340.1:p.Arg60Trp | |
| XM_011524039.1:c.169C>T | XP_011522341.1:p.Arg57Trp | |
| XM_011524040.1:c.169C>T | XP_011522342.1:p.Arg57Trp | |
| XM_011524041.1:c.160C>T | XP_011522343.1:p.Arg54Trp | |
| XM_011524042.1:c.31C>T | XP_011522344.1:p.Arg11Trp | |
| XR_934203.1:n.69+3282G>A | ||
| XM_017025232.1:c.178C>T | XP_016880721.1:p.Arg60Trp | |
| XM_024451007.1:c.178C>T | XP_024306775.1:p.Arg60Trp | |
| NM_001165967.2:c.73C>T MANE Select | NP_001159439.1:p.Arg25Trp | |
| NM_032580.4:c.73C>T | NP_115969.2:p.Arg25Trp |