gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00040798 (SAS)
Genomes Max Group AF
0.00016881 (SAS)
Exomes Max Group AF
0.00040054 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21851831C>A , CM000663.2:g.21851831C>A | GRCh38 |
| NC_000001.10:g.22178324C>A , CM000663.1:g.22178324C>A | GRCh37 |
| NC_000001.9:g.22050911C>A | NCBI36 |
| NG_016740.1:g.90427G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.6966G>T MANE Select | ENSP00000363827.3:p.Thr2322= | |
| ENST00000374695.7:c.6966G>T | ENSP00000363827.3:p.Thr2322= | |
| ENST00000493940.2:n.305-241G>T | ||
| NM_001291860.1:c.6969G>T | NP_001278789.1:p.Thr2323= | |
| NM_005529.6:c.6966G>T | NP_005520.4:p.Thr2322= | |
| XM_006710594.2:c.7512G>T | XP_006710657.1:p.Thr2504= | |
| XM_006710595.2:c.7464G>T | XP_006710658.1:p.Thr2488= | |
| XM_006710596.2:c.7443G>T | XP_006710659.1:p.Thr2481= | |
| XM_006710597.2:c.6966G>T | XP_006710660.1:p.Thr2322= | |
| XM_011541317.1:c.7515G>T | XP_011539619.1:p.Thr2505= | |
| XM_011541318.1:c.7515G>T | XP_011539620.1:p.Thr2505= | |
| XM_011541319.1:c.7515G>T | XP_011539621.1:p.Thr2505= | |
| XM_011541320.1:c.7236G>T | XP_011539622.1:p.Thr2412= | |
| XM_011541321.1:c.7020G>T | XP_011539623.1:p.Thr2340= | |
| XM_011541322.1:c.7515G>T | XP_011539624.1:p.Thr2505= | |
| XM_011541318.2:c.7515G>T | XP_011539620.1:p.Thr2505= | |
| XM_017001120.1:c.7161G>T | XP_016856609.1:p.Thr2387= | |
| XM_017001121.1:c.7110G>T | XP_016856610.1:p.Thr2370= | |
| XM_017001122.1:c.7107G>T | XP_016856611.1:p.Thr2369= | |
| NM_005529.7:c.6966G>T MANE Select | NP_005520.4:p.Thr2322= | |
| NM_001291860.2:c.6969G>T | NP_001278789.1:p.Thr2323= |