gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00075668 (AFR)
Genomes Max Group AF
0.00076853 (AFR)
Exomes Max Group AF
0.0005939 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13283726G>A , CM000672.2:g.13283726G>A | GRCh38 |
| NC_000010.10:g.13325726G>A , CM000672.1:g.13325726G>A | GRCh37 |
| NC_000010.9:g.13365732G>A | NCBI36 |
| NG_012862.1:g.21405C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263038.9:c.792C>T MANE Select | ENSP00000263038.4:p.His264= | |
| ENST00000263038.8:c.792C>T | ENSP00000263038.4:p.His264= | |
| ENST00000396913.6:c.492C>T | ENSP00000380121.2:p.His164= | |
| ENST00000396920.7:c.741C>T | ENSP00000380126.3:p.His247= | |
| ENST00000453759.6:c.492C>T | ENSP00000412525.2:p.His164= | |
| NM_001037537.1:c.492C>T | NP_001032626.1:p.His164= | |
| NM_006214.3:c.792C>T | NP_006205.1:p.His264= | |
| XM_005252469.2:c.573C>T | XP_005252526.1:p.His191= | |
| NM_001323080.1:c.492C>T | NP_001310009.1:p.His164= | |
| NM_001323082.1:c.798C>T | NP_001310011.1:p.His266= | |
| NM_001323083.1:c.528C>T | NP_001310012.1:p.His176= | |
| NM_001323084.1:c.498C>T | NP_001310013.1:p.His166= | |
| NM_006214.4:c.792C>T MANE Select | NP_006205.1:p.His264= | |
| NM_001037537.2:c.492C>T | NP_001032626.1:p.His164= | |
| NM_001323080.2:c.492C>T | NP_001310009.1:p.His164= | |
| NM_001323082.2:c.798C>T | NP_001310011.1:p.His266= | |
| NM_001323083.2:c.528C>T | NP_001310012.1:p.His176= | |
| NM_001323084.2:c.498C>T | NP_001310013.1:p.His166= |