gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2539256 (AFR)
Genomes Max Group AF
0.2475413 (AFR)
Exomes Max Group AF
0.25904435 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.122377927G>A , CM000671.2:g.122377927G>A | GRCh38 |
| NC_000009.11:g.125140206G>A , CM000671.1:g.125140206G>A | GRCh37 |
| NC_000009.10:g.124180027G>A | NCBI36 |
| NG_032900.1:g.11978G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362012.7:c.123G>A MANE Select | ENSP00000354612.2:p.Gln41= | |
| ENST00000373698.7:c.-205G>A | ENSP00000362802.5:n.-205G>A | |
| ENST00000426608.6:c.95-506G>A | ENSP00000411606.2:n.95-506G>A | |
| ENST00000540753.6:c.48G>A | ENSP00000437709.1:p.Gln16= | |
| ENST00000619306.5:c.123G>A | ENSP00000483540.2:p.Gln41= | |
| ENST00000643576.1:n.217G>A | ||
| ENST00000643810.1:c.-205G>A | ENSP00000494717.1:n.-205G>A | |
| ENST00000645132.1:n.290G>A | ||
| ENST00000647067.1:c.95-1G>A | ENSP00000495728.1:n.95-1G>A | |
| ENST00000223423.8:c.123G>A | ENSP00000223423.4:p.Gln41= | |
| ENST00000362012.6:c.123G>A | ENSP00000354612.2:p.Gln41= | |
| ENST00000373698.6:c.-205G>A | ENSP00000362802.5:n.-205G>A | |
| ENST00000426608.5:c.86-506G>A | ENSP00000411606.1:n.86-506G>A | |
| ENST00000540753.5:c.48G>A | ENSP00000437709.1:p.Gln16= | |
| ENST00000614910.4:c.123G>A | ENSP00000484800.1:p.Gln41= | |
| ENST00000619306.4:c.216G>A | ENSP00000483540.1:p.Gln72= | |
| NM_000962.3:c.123G>A | NP_000953.2:p.Gln41= | |
| NM_001271164.1:c.123G>A | NP_001258093.1:p.Gln41= | |
| NM_001271165.1:c.-205G>A | NP_001258094.1:n.-205G>A | |
| NM_001271166.1:c.-205G>A | NP_001258095.1:n.-205G>A | |
| NM_001271367.1:c.-204-1G>A | NP_001258296.1:n.-204-1G>A | |
| NM_001271368.1:c.48G>A | NP_001258297.1:p.Gln16= | |
| NM_080591.2:c.123G>A | NP_542158.1:p.Gln41= | |
| XM_005252105.2:c.48G>A | XP_005252162.1:p.Gln16= | |
| XM_011518875.1:c.48G>A | XP_011517177.1:p.Gln16= | |
| XM_011518876.1:c.-205G>A | XP_011517178.1:n.-205G>A | |
| XM_005252105.3:c.48G>A | XP_005252162.1:p.Gln16= | |
| XM_011518875.2:c.48G>A | XP_011517177.1:p.Gln16= | |
| XM_011518876.2:c.-205G>A | XP_011517178.1:n.-205G>A | |
| XM_024447614.1:c.-205G>A | XP_024303382.1:n.-205G>A | |
| XM_024447615.1:c.-205G>A | XP_024303383.1:n.-205G>A | |
| NM_000962.4:c.123G>A MANE Select | NP_000953.2:p.Gln41= | |
| NM_001271164.2:c.123G>A | NP_001258093.1:p.Gln41= | |
| NM_001271165.2:c.-205G>A | NP_001258094.1:n.-205G>A | |
| NM_001271166.2:c.-205G>A | NP_001258095.1:n.-205G>A | |
| NM_001271367.2:c.-204-1G>A | NP_001258296.1:n.-204-1G>A | |
| NM_001271368.2:c.48G>A | NP_001258297.1:p.Gln16= | |
| NM_080591.3:c.123G>A | NP_542158.1:p.Gln41= |