gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01362785 (AFR)
Genomes Max Group AF
0.01259817 (AFR)
Exomes Max Group AF
0.01425655 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.91002123C>T , CM000677.2:g.91002123C>T | GRCh38 |
| NC_000015.9:g.91545353C>T , CM000677.1:g.91545353C>T | GRCh37 |
| NC_000015.8:g.89346357C>T | NCBI36 |
| NG_012162.1:g.25481G>A , LRG_884:g.25481G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333371.8:c.1332G>A MANE Select | ENSP00000327650.4:p.Thr444= | |
| ENST00000643536.1:c.1332G>A | ENSP00000494429.1:p.Thr444= | |
| ENST00000647331.1:c.1332G>A | ENSP00000493953.1:p.Thr444= | |
| ENST00000333371.7:c.1332G>A | ENSP00000327650.3:p.Thr444= | |
| ENST00000535906.1:c.1251G>A | ENSP00000444053.1:p.Thr417= | |
| ENST00000574755.5:c.*1027G>A | ENSP00000460413.1:n.*1027G>A | |
| NM_001289148.1:c.1251G>A | NP_001276077.1:p.Thr417= | |
| NM_001289149.1:c.1059G>A | NP_001276078.1:p.Thr353= | |
| NM_018668.4:c.1332G>A , LRG_884t1:c.1332G>A | NP_061138.3:p.Thr444= | |
| XM_005254884.2:c.1254G>A | XP_005254941.1:p.Thr418= | |
| XM_005254887.1:c.1059G>A | XP_005254944.1:p.Thr353= | |
| XM_011521448.1:c.1059G>A | XP_011519750.1:p.Thr353= | |
| XM_011521449.1:c.1008G>A | XP_011519751.1:p.Thr336= | |
| XM_011521449.2:c.1008G>A | XP_011519751.1:p.Thr336= | |
| XM_017022075.2:c.987G>A | XP_016877564.1:p.Thr329= | |
| XM_017022076.1:c.987G>A | XP_016877565.1:p.Thr329= | |
| XR_001751213.2:n.1830G>A | ||
| NM_018668.5:c.1332G>A MANE Select | NP_061138.3:p.Thr444= |