Revel Score:
ENST00000372748 (MANE Select)
0.591
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000542 (NFE)
Exomes Max Group AF
0.00000531 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40301193T>C , CM000663.2:g.40301193T>C | GRCh38 |
| NC_000001.10:g.40766865T>C , CM000663.1:g.40766865T>C | GRCh37 |
| NC_000001.9:g.40539452T>C | NCBI36 |
| NG_008031.1:g.21075A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372748.8:c.2059A>G MANE Select | ENSP00000361834.3:p.Lys687Glu | |
| ENST00000372748.7:c.2059A>G | ENSP00000361834.3:p.Lys687Glu | |
| ENST00000482722.5:n.2362A>G | ||
| NM_001852.3:c.2059A>G | NP_001843.1:p.Lys687Glu | |
| XM_006710365.2:c.2059A>G | XP_006710428.1:p.Lys687Glu | |
| XM_011540714.1:c.2071A>G | XP_011539016.1:p.Lys691Glu | |
| XM_011540715.1:c.1789A>G | XP_011539017.1:p.Lys597Glu | |
| XM_011540716.1:c.1789A>G | XP_011539018.1:p.Lys597Glu | |
| XM_011540717.1:c.1516A>G | XP_011539019.1:p.Lys506Glu | |
| XM_006710365.3:c.2059A>G | XP_006710428.1:p.Lys687Glu | |
| XM_011540715.2:c.1789A>G | XP_011539017.1:p.Lys597Glu | |
| XM_011540716.2:c.1789A>G | XP_011539018.1:p.Lys597Glu | |
| XM_011540717.2:c.1516A>G | XP_011539019.1:p.Lys506Glu | |
| XM_017000332.1:c.2071A>G | XP_016855821.1:p.Lys691Glu | |
| XM_017000333.1:c.1777A>G | XP_016855822.1:p.Lys593Glu | |
| NM_001852.4:c.2059A>G MANE Select | NP_001843.1:p.Lys687Glu |