Revel Score:
ENST00000338639 (MANE Select)
0.361
ENST00000493678
0.361
ENST00000377491
0.361
ENST00000377488
0.361
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7965425G>T , CM000663.2:g.7965425G>T | GRCh38 |
| NC_000001.10:g.8025485G>T , CM000663.1:g.8025485G>T | GRCh37 |
| NC_000001.9:g.7948072G>T | NCBI36 |
| NG_008271.1:g.8772G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338639.10:c.192G>T MANE Select | ENSP00000340278.5:p.Glu64Asp | |
| ENST00000338639.9:c.192G>T | ENSP00000340278.5:p.Glu64Asp | |
| ENST00000377488.5:c.192G>T | ENSP00000366708.1:p.Glu64Asp | |
| ENST00000377491.5:c.192G>T | ENSP00000366711.1:p.Glu64Asp | |
| ENST00000377493.9:c.192G>T | ENSP00000466242.1:p.Glu64Asp | |
| ENST00000460192.5:n.288G>T | ||
| ENST00000465354.5:n.261G>T | ||
| ENST00000469225.1:c.75G>T | ENSP00000466756.1:p.Glu25Asp | |
| ENST00000493373.5:c.192G>T | ENSP00000465404.1:p.Glu64Asp | |
| ENST00000493678.5:c.192G>T | ENSP00000418770.1:p.Glu64Asp | |
| ENST00000497113.1:n.211G>T | ||
| NM_001123377.1:c.192G>T | NP_001116849.1:p.Glu64Asp | |
| NM_007262.4:c.192G>T | NP_009193.2:p.Glu64Asp | |
| XM_005263424.2:c.192G>T | XP_005263481.1:p.Glu64Asp | |
| XM_005263424.3:c.192G>T | XP_005263481.1:p.Glu64Asp | |
| NM_007262.5:c.192G>T MANE Select | NP_009193.2:p.Glu64Asp | |
| NM_001123377.2:c.192G>T | NP_001116849.1:p.Glu64Asp |