gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003481 (AFR)
Genomes Max Group AF
0.00004744 (AFR)
Exomes Max Group AF
0.00002985 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10536221G>A , CM000663.2:g.10536221G>A | GRCh38 |
| NC_000001.10:g.10596278G>A , CM000663.1:g.10596278G>A | GRCh37 |
| NC_000001.9:g.10518865G>A | NCBI36 |
| NG_008340.1:g.66276G>A | |
| NG_008340.2:g.66276G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356607.9:c.93G>A MANE Select | ENSP00000349016.4:p.Thr31= | |
| ENST00000356607.8:c.93G>A | ENSP00000349016.4:p.Thr31= | |
| ENST00000472851.1:n.454G>A | ||
| ENST00000491661.2:c.78G>A | ENSP00000465473.1:p.Thr26= | |
| ENST00000492696.1:n.182G>A | ||
| NM_004565.2:c.93G>A | NP_004556.1:p.Thr31= | |
| XM_005263470.3:c.-100G>A | XP_005263527.1:n.-100G>A | |
| XM_011541577.1:c.135G>A | XP_011539879.1:p.Thr45= | |
| XM_011541578.1:c.36G>A | XP_011539880.1:p.Thr12= | |
| XM_011541579.1:c.135G>A | XP_011539881.1:p.Thr45= | |
| XM_011541580.1:c.93G>A | XP_011539882.1:p.Thr31= | |
| XM_005263470.5:c.-100G>A | XP_005263527.1:n.-100G>A | |
| XM_011541577.2:c.135G>A | XP_011539879.1:p.Thr45= | |
| XM_011541578.2:c.36G>A | XP_011539880.1:p.Thr12= | |
| XM_011541579.3:c.135G>A | XP_011539881.1:p.Thr45= | |
| XM_024447651.1:c.-100G>A | XP_024303419.1:n.-100G>A | |
| NM_004565.3:c.93G>A MANE Select | NP_004556.1:p.Thr31= |