gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001939 (AFR)
Genomes Max Group AF
0.00001918 (AFR)
Exomes Max Group AF
3.1e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1104085G>A , CM000681.2:g.1104085G>A | GRCh38 |
| NC_000019.9:g.1104084G>A , CM000681.1:g.1104084G>A | GRCh37 |
| NC_000019.8:g.1055084G>A | NCBI36 |
| NG_050621.1:g.5160G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593032.6:c.-40G>A | ENSP00000465828.4:n.-40G>A | |
| ENST00000706713.1:c.42G>A | ENSP00000516510.1:p.Leu14= | |
| ENST00000706714.1:c.-40G>A | ENSP00000516511.1:n.-40G>A | |
| ENST00000354171.13:c.42G>A MANE Select | ENSP00000346103.7:p.Leu14= | |
| ENST00000589115.6:c.42G>A | ENSP00000466872.3:p.Leu14= | |
| ENST00000354171.12:c.42G>A | ENSP00000346103.7:p.Leu14= | |
| ENST00000588919.5:c.-40G>A | ENSP00000464989.3:n.-40G>A | |
| ENST00000589115.5:c.42G>A | ENSP00000466872.2:p.Leu14= | |
| ENST00000593032.5:c.-40G>A | ENSP00000465828.3:n.-40G>A | |
| ENST00000611653.4:c.-40G>A | ENSP00000483655.1:n.-40G>A | |
| ENST00000616066.4:c.42G>A | ENSP00000485000.1:p.Leu14= | |
| NM_001039847.2:c.42G>A | NP_001034936.1:p.Leu14= | |
| NM_002085.4:c.42G>A | NP_002076.2:p.Leu14= | |
| NM_001039847.3:c.42G>A | NP_001034936.1:p.Leu14= | |
| NM_001367832.1:c.-40G>A | NP_001354761.1:n.-40G>A | |
| NM_002085.5:c.42G>A MANE Select | NP_002076.2:p.Leu14= |