gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.95365659 (SAS)
Genomes Max Group AF
0.92584717 (SAS)
Exomes Max Group AF
0.95407788 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.57105944A>G , CM000665.2:g.57105944A>G | GRCh38 |
| NC_000003.11:g.57139972A>G , CM000665.1:g.57139972A>G | GRCh37 |
| NC_000003.10:g.57115012A>G | NCBI36 |
| NG_047158.1:g.69374T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296318.12:c.660T>C MANE Select | ENSP00000296318.7:p.His220= | |
| ENST00000296318.11:c.660T>C | ENSP00000296318.7:p.His220= | |
| ENST00000320057.9:c.228T>C | ENSP00000322250.5:p.His76= | |
| ENST00000463523.5:c.228T>C | ENSP00000417516.1:p.His76= | |
| ENST00000469841.5:n.597T>C | ||
| NM_017563.3:c.660T>C | NP_060033.3:p.His220= | |
| XM_005265238.3:c.576T>C | XP_005265295.1:p.His192= | |
| XM_006713209.2:c.228T>C | XP_006713272.1:p.His76= | |
| XM_011533849.1:c.588T>C | XP_011532151.1:p.His196= | |
| XM_011533850.1:c.228T>C | XP_011532152.1:p.His76= | |
| NM_001318864.1:c.228T>C | NP_001305793.1:p.His76= | |
| NM_017563.4:c.660T>C | NP_060033.3:p.His220= | |
| XM_005265238.4:c.576T>C | XP_005265295.1:p.His192= | |
| XM_011533849.2:c.228T>C | XP_011532151.2:p.His76= | |
| NM_017563.5:c.660T>C MANE Select | NP_060033.3:p.His220= | |
| NM_001318864.2:c.228T>C | NP_001305793.1:p.His76= |