Revel Score:
ENST00000222005 (MANE Select)
0.260
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10393282C>T , CM000681.2:g.10393282C>T | GRCh38 |
| NC_000019.9:g.10503958C>T , CM000681.1:g.10503958C>T | GRCh37 |
| NC_000019.8:g.10364958C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222005.7:c.886G>A MANE Select | ENSP00000222005.1:p.Glu296Lys | |
| ENST00000222005.6:c.886G>A | ENSP00000222005.1:p.Glu296Lys | |
| ENST00000589331.1:c.132G>A | ||
| ENST00000589625.5:c.324G>A | ||
| ENST00000589629.5:c.604G>A | ENSP00000467747.1:p.Glu202Lys | |
| ENST00000590632.1:n.505G>A | ||
| ENST00000591248.5:n.1028G>A | ||
| ENST00000593124.1:c.1039G>A | ENSP00000465724.1:p.Glu347Lys | |
| NM_007065.3:c.886G>A | NP_008996.1:p.Glu296Lys | |
| XM_011527652.1:c.1039G>A | XP_011525954.1:p.Glu347Lys | |
| XM_011527652.3:c.1039G>A | XP_011525954.1:p.Glu347Lys | |
| NM_007065.4:c.886G>A MANE Select | NP_008996.1:p.Glu296Lys |