Revel Score:
ENST00000318445 (MANE Select)
0.133
ENST00000424469
0.133
ENST00000556649
0.133
ENST00000555549
0.133
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.92104415G>T , CM000677.2:g.92104415G>T | GRCh38 |
| NC_000015.9:g.92647645G>T , CM000677.1:g.92647645G>T | GRCh37 |
| NC_000015.8:g.90448649G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318445.11:c.882G>T MANE Select | ENSP00000320634.6:p.Glu294Asp | |
| ENST00000318445.10:c.882G>T | ENSP00000320634.6:p.Glu294Asp | |
| ENST00000424469.2:c.882G>T | ENSP00000387846.2:p.Glu294Asp | |
| ENST00000553653.5:n.1068G>T | ||
| ENST00000555549.5:n.430G>T | ||
| ENST00000555769.5:n.777G>T | ||
| ENST00000556649.1:n.495G>T | ||
| NM_001145044.1:c.882G>T | NP_001138516.1:p.Glu294Asp | |
| NM_013272.3:c.882G>T | NP_037404.2:p.Glu294Asp | |
| XM_005254889.1:c.882G>T | XP_005254946.1:p.Glu294Asp | |
| XM_005254891.1:c.537G>T | XP_005254948.1:p.Glu179Asp | |
| XM_011521456.1:c.708G>T | XP_011519758.1:p.Glu236Asp | |
| XM_011521457.1:c.882G>T | XP_011519759.1:p.Glu294Asp | |
| XR_429450.2:n.802G>T | ||
| XR_931795.1:n.972G>T | ||
| XR_931796.1:n.972G>T | ||
| NR_135775.1:n.813G>T | ||
| XM_005254891.3:c.537G>T | XP_005254948.1:p.Glu179Asp | |
| XM_011521456.2:c.708G>T | XP_011519758.1:p.Glu236Asp | |
| XR_931796.2:n.972G>T | ||
| NM_013272.4:c.882G>T MANE Select | NP_037404.2:p.Glu294Asp | |
| NR_135775.2:n.809G>T |