Revel Score:
ENST00000426263 (MANE Select)
0.715
ENST00000372501
0.715
ENST00000397019
0.715
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929024C>A , CM000663.2:g.42929024C>A | GRCh38 |
| NC_000001.10:g.43394695C>A , CM000663.1:g.43394695C>A | GRCh37 |
| NC_000001.9:g.43167282C>A | NCBI36 |
| NG_008232.1:g.35153G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.982G>T MANE Select | ENSP00000416293.2:p.Val328Leu | |
| ENST00000674545.1:n.476G>T | ||
| ENST00000674765.1:c.982G>T | ENSP00000501811.1:p.Val328Leu | |
| ENST00000675112.1:n.1283G>T | ||
| ENST00000676254.1:n.1431G>T | ||
| ENST00000426263.7:c.982G>T | ENSP00000416293.2:p.Val328Leu | |
| ENST00000439722.2:c.861G>T | ENSP00000395521.2:n.861G>T | |
| ENST00000475162.3:c.415+1602G>T | ||
| ENST00000630287.2:c.*297G>T | ENSP00000486694.1:n.*297G>T | |
| NM_006516.2:c.982G>T | NP_006507.2:p.Val328Leu | |
| NM_006516.3:c.982G>T | NP_006507.2:p.Val328Leu | |
| NM_006516.4:c.982G>T MANE Select | NP_006507.2:p.Val328Leu |