Revel Score:
ENST00000205402 (MANE Select)
0.959
ENST00000417551
0.959
ENST00000537148
0.959
ENST00000440410
0.959
ENST00000437604
0.959
ENST00000539590
0.959
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107919071A>T , CM000669.2:g.107919071A>T | GRCh38 |
| NC_000007.13:g.107559516A>T , CM000669.1:g.107559516A>T | GRCh37 |
| NC_000007.12:g.107346752A>T | NCBI36 |
| NG_008045.1:g.32931A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205402.10:c.1436A>T MANE Select | ENSP00000205402.3:p.Asp479Val | |
| ENST00000205402.9:c.1436A>T | ENSP00000205402.3:p.Asp479Val | |
| ENST00000415325.5:c.*1110A>T | ENSP00000402593.1:n.*1110A>T | |
| ENST00000417551.5:c.1436A>T | ENSP00000390667.1:p.Asp479Val | |
| ENST00000437604.6:c.1292A>T | ENSP00000387542.2:p.Asp431Val | |
| ENST00000440410.5:c.1367A>T | ENSP00000417016.1:p.Asp456Val | |
| NM_000108.4:c.1436A>T | NP_000099.2:p.Asp479Val | |
| NM_001289750.1:c.1139A>T | NP_001276679.1:p.Asp380Val | |
| NM_001289751.1:c.1367A>T | NP_001276680.1:p.Asp456Val | |
| NM_001289752.1:c.1292A>T | NP_001276681.1:p.Asp431Val | |
| NM_000108.5:c.1436A>T MANE Select | NP_000099.2:p.Asp479Val |