gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.017997 (AFR)
Genomes Max Group AF
0.01825514 (AFR)
Exomes Max Group AF
0.01693627 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1658289G>A , CM000679.2:g.1658289G>A | GRCh38 |
| NC_000017.10:g.1561583G>A , CM000679.1:g.1561583G>A | GRCh37 |
| NC_000017.9:g.1508333G>A | NCBI36 |
| NG_009118.1:g.31594C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.5289C>T | ENSP00000460849.2:p.His1763= | |
| ENST00000703537.1:c.1280C>T | ||
| ENST00000703538.1:c.*5192C>T | ENSP00000515361.1:n.*5192C>T | |
| ENST00000703539.1:n.1783C>T | ||
| ENST00000703540.1:c.5322C>T | ENSP00000515362.1:p.His1774= | |
| ENST00000703541.1:c.5334C>T | ENSP00000515363.1:p.His1778= | |
| ENST00000304992.11:c.5469C>T MANE Select | ENSP00000304350.6:p.His1823= | |
| ENST00000304992.10:c.5469C>T | ENSP00000304350.6:p.His1823= | |
| ENST00000572621.5:c.5469C>T | ENSP00000460348.1:p.His1823= | |
| NM_006445.3:c.5469C>T | NP_006436.3:p.His1823= | |
| XM_024450537.1:c.5469C>T | XP_024306305.1:p.His1823= | |
| NM_006445.4:c.5469C>T MANE Select | NP_006436.3:p.His1823= |