Revel Score:
ENST00000228841 (MANE Select)
0.938
ENST00000550439
0.938
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110915759C>T , CM000674.2:g.110915759C>T | GRCh38 |
| NC_000012.11:g.111353563C>T , CM000674.1:g.111353563C>T | GRCh37 |
| NC_000012.10:g.109837946C>T | NCBI36 |
| NG_007554.1:g.9819G>A , LRG_393:g.9819G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.125G>A MANE Select | ENSP00000228841.8:p.Gly42Asp | |
| ENST00000663220.1:c.68G>A | ENSP00000499568.1:p.Gly23Asp | |
| ENST00000228841.12:c.125G>A | ENSP00000228841.7:p.Gly42Asp | |
| ENST00000548438.1:c.94-1435G>A | ENSP00000447154.1:n.94-1435G>A | |
| NM_000432.3:c.125G>A , LRG_393t1:c.125G>A | NP_000423.2:p.Gly42Asp | |
| NM_000432.4:c.125G>A MANE Select | NP_000423.2:p.Gly42Asp |