gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00017315 (NFE)
Genomes Max Group AF
0.00006286 (AFR)
Exomes Max Group AF
0.00017644 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235709265G>A , CM000663.2:g.235709265G>A | GRCh38 |
| NC_000001.10:g.235872565G>A , CM000663.1:g.235872565G>A | GRCh37 |
| NC_000001.9:g.233939188G>A | NCBI36 |
| NG_007397.1:g.179376C>T , LRG_143:g.179376C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462376.2:n.1379C>T | ||
| ENST00000697178.1:c.*5664C>T | ENSP00000513163.1:n.*5664C>T | |
| ENST00000697179.1:n.2678C>T | ||
| ENST00000697235.1:c.519C>T | ENSP00000513202.1:p.His173= | |
| ENST00000697236.1:c.3433C>T | ENSP00000513203.1:n.3433C>T | |
| ENST00000697237.1:c.741-61C>T | ||
| ENST00000697240.1:c.2103C>T | ENSP00000513205.1:p.His701= | |
| ENST00000389793.7:c.9969C>T MANE Select | ENSP00000374443.2:p.His3323= | |
| ENST00000389793.6:c.9969C>T | ENSP00000374443.2:p.His3323= | |
| ENST00000389794.7:c.*5393C>T | ENSP00000374444.4:n.*5393C>T | |
| ENST00000462376.1:n.388C>T | ||
| ENST00000473037.5:n.4959C>T | ||
| NM_000081.3:c.9969C>T , LRG_143t1:c.9969C>T | NP_000072.2:p.His3323= | |
| NM_001301365.1:c.9969C>T , LRG_143t2:c.9969C>T | NP_001288294.1:p.His3323= | |
| XM_011544031.1:c.10131C>T | XP_011542333.1:p.His3377= | |
| XM_011544032.1:c.10131C>T | XP_011542334.1:p.His3377= | |
| XM_011544033.1:c.10131C>T | XP_011542335.1:p.His3377= | |
| XM_011544034.1:c.9993C>T | XP_011542336.1:p.His3331= | |
| XM_011544036.1:c.7794C>T | XP_011542338.1:p.His2598= | |
| XM_011544033.2:c.10131C>T | XP_011542335.1:p.His3377= | |
| XM_011544036.2:c.7794C>T | XP_011542338.1:p.His2598= | |
| XM_017000150.1:c.10131C>T | XP_016855639.1:p.His3377= | |
| NM_000081.4:c.9969C>T MANE Select | NP_000072.2:p.His3323= |