Revel Score:
ENST00000300452 (MANE Select)
0.817
ENST00000372875
0.817
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00033141 (EAS)
Genomes Max Group AF
0.00026276 (EAS)
Exomes Max Group AF
0.00029301 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128325849G>A , CM000671.2:g.128325849G>A | GRCh38 |
| NC_000009.11:g.131088128G>A , CM000671.1:g.131088128G>A | GRCh37 |
| NC_000009.10:g.130127949G>A | NCBI36 |
| NG_042101.1:g.8342G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300452.8:c.370G>A MANE Select | ENSP00000300452.3:p.Gly124Ser | |
| ENST00000300452.7:c.370G>A | ENSP00000300452.3:p.Gly124Ser | |
| ENST00000372875.3:c.370G>A | ENSP00000361966.3:p.Gly124Ser | |
| NM_001305942.1:c.273G>A | NP_001292871.1:p.Ser91= | |
| NM_016035.3:c.370G>A | NP_057119.2:p.Gly124Ser | |
| NM_016035.4:c.370G>A | NP_057119.2:p.Gly124Ser | |
| XM_011518761.1:c.370G>A | XP_011517063.1:p.Gly124Ser | |
| XR_929805.1:n.716G>A | ||
| XM_017014792.1:c.273G>A | XP_016870281.1:p.Ser91= | |
| XM_017014793.1:c.273G>A | XP_016870282.1:p.Ser91= | |
| XR_001746316.2:n.623G>A | ||
| XR_929805.3:n.716G>A | ||
| NM_016035.5:c.370G>A MANE Select | NP_057119.3:p.Gly124Ser | |
| NM_001305942.2:c.273G>A | NP_001292871.2:p.Ser91= |