Revel Score:
ENST00000280979 (MANE Select)
0.045
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008156 (AFR)
Genomes Max Group AF
0.00006285 (AFR)
Exomes Max Group AF
0.00005851 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.32822038T>A , CM000676.2:g.32822038T>A | GRCh38 |
| NC_000014.8:g.33291244T>A , CM000676.1:g.33291244T>A | GRCh37 |
| NC_000014.7:g.32360995T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280979.9:c.4225T>A MANE Select | ENSP00000280979.4:p.Leu1409Ile | |
| ENST00000280979.8:c.4225T>A | ENSP00000280979.4:p.Leu1409Ile | |
| ENST00000557272.1:c.3589-7810T>A | ENSP00000451247.1:n.3589-7810T>A | |
| NM_004274.4:c.4225T>A | NP_004265.3:p.Leu1409Ile | |
| XM_005268219.3:c.4228T>A | XP_005268276.1:p.Leu1410Ile | |
| XM_011537378.1:c.1513T>A | XP_011535680.1:p.Leu505Ile | |
| XM_011537379.1:c.1444T>A | XP_011535681.1:p.Leu482Ile | |
| XM_011537380.1:c.1444T>A | XP_011535682.1:p.Leu482Ile | |
| XM_011537381.1:c.1294T>A | XP_011535683.1:p.Leu432Ile | |
| XM_011537382.1:c.1294T>A | XP_011535684.1:p.Leu432Ile | |
| XM_011537383.1:c.1210T>A | XP_011535685.1:p.Leu404Ile | |
| XM_011537378.3:c.1513T>A | XP_011535680.1:p.Leu505Ile | |
| XM_011537379.3:c.1444T>A | XP_011535681.1:p.Leu482Ile | |
| XM_011537383.3:c.1210T>A | XP_011535685.1:p.Leu404Ile | |
| XM_017021808.2:c.4228T>A | XP_016877297.1:p.Leu1410Ile | |
| XM_017021811.2:c.1513T>A | XP_016877300.1:p.Leu505Ile | |
| XM_024449754.1:c.4228T>A | XP_024305522.1:p.Leu1410Ile | |
| XM_024449755.1:c.4228T>A | XP_024305523.1:p.Leu1410Ile | |
| XM_024449756.1:c.4228T>A | XP_024305524.1:p.Leu1410Ile | |
| XM_024449757.1:c.4228T>A | XP_024305525.1:p.Leu1410Ile | |
| NM_004274.5:c.4225T>A MANE Select | NP_004265.3:p.Leu1409Ile |