Revel Score:
ENST00000284885 (MANE Select)
0.122
ENST00000422787
0.122
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.18383723C>T , CM000683.2:g.18383723C>T | GRCh38 |
| NC_000021.8:g.19756040C>T , CM000683.1:g.19756040C>T | GRCh37 |
| NC_000021.7:g.18677911C>T | NCBI36 |
| NG_012207.1:g.24931G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284885.8:c.400G>A MANE Select | ENSP00000284885.3:p.Glu134Lys | |
| ENST00000284885.7:c.400G>A | ENSP00000284885.3:p.Glu134Lys | |
| ENST00000422787.1:c.265G>A | ENSP00000398253.1:p.Glu89Lys | |
| ENST00000474775.1:c.-222G>A | ENSP00000474811.1:n.-222G>A | |
| NM_002772.2:c.400G>A | NP_002763.2:p.Glu134Lys | |
| XM_011529654.1:c.490G>A | XP_011527956.1:p.Glu164Lys | |
| XM_011529655.1:c.490G>A | XP_011527957.1:p.Glu164Lys | |
| XM_011529656.1:c.490G>A | XP_011527958.1:p.Glu164Lys | |
| XM_011529657.1:c.490G>A | XP_011527959.1:p.Glu164Lys | |
| XM_011529658.1:c.490G>A | XP_011527960.1:p.Glu164Lys | |
| XM_011529659.1:c.400G>A | XP_011527961.1:p.Glu134Lys | |
| XM_011529654.2:c.490G>A | XP_011527956.1:p.Glu164Lys | |
| XM_011529656.2:c.490G>A | XP_011527958.1:p.Glu164Lys | |
| XM_011529657.2:c.490G>A | XP_011527959.1:p.Glu164Lys | |
| XM_011529658.2:c.490G>A | XP_011527960.1:p.Glu164Lys | |
| NM_002772.3:c.400G>A MANE Select | NP_002763.3:p.Glu134Lys |