gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002315 (AMR)
Exomes Max Group AF
0.00003193 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.5952796C>G , CM000663.2:g.5952796C>G | GRCh38 |
| NC_000001.10:g.6012856C>G , CM000663.1:g.6012856C>G | GRCh37 |
| NC_000001.9:g.5935443C>G | NCBI36 |
| NG_011724.2:g.44676G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378156.9:c.714G>C MANE Select | ENSP00000367398.4:p.Thr238= | |
| ENST00000378156.8:c.714G>C | ENSP00000367398.4:p.Thr238= | |
| ENST00000378169.7:c.674-4545G>C | ENSP00000367411.3:n.674-4545G>C | |
| ENST00000478423.6:n.616G>C | ||
| ENST00000489180.6:c.714G>C | ENSP00000423747.1:p.Thr238= | |
| ENST00000622020.4:c.714G>C | ENSP00000481831.2:p.Thr238= | |
| NM_001291593.1:c.-556-4545G>C | NP_001278522.1:n.-556-4545G>C | |
| NM_001291594.1:c.-653G>C | NP_001278523.1:n.-653G>C | |
| NM_015102.4:c.714G>C | NP_055917.1:p.Thr238= | |
| NR_111987.1:n.982G>C | ||
| XM_006710563.2:c.714G>C | XP_006710626.1:p.Thr238= | |
| XM_006710565.2:c.714G>C | XP_006710628.1:p.Thr238= | |
| XM_011541213.1:c.714G>C | XP_011539515.1:p.Thr238= | |
| XM_011541214.1:c.714G>C | XP_011539516.1:p.Thr238= | |
| XM_011541215.1:c.714G>C | XP_011539517.1:p.Thr238= | |
| XM_011541216.1:c.714G>C | XP_011539518.1:p.Thr238= | |
| XM_011541217.1:c.714G>C | XP_011539519.1:p.Thr238= | |
| XM_011541218.1:c.714G>C | XP_011539520.1:p.Thr238= | |
| XM_011541219.1:c.660G>C | XP_011539521.1:p.Thr220= | |
| XM_011541220.1:c.714G>C | XP_011539522.1:p.Thr238= | |
| XR_946604.1:n.752G>C | ||
| XR_946605.1:n.752G>C | ||
| XM_006710563.3:c.714G>C | XP_006710626.1:p.Thr238= | |
| XM_011541216.2:c.714G>C | XP_011539518.1:p.Thr238= | |
| XM_011541217.2:c.714G>C | XP_011539519.1:p.Thr238= | |
| XM_011541218.2:c.714G>C | XP_011539520.1:p.Thr238= | |
| XM_017000996.1:c.714G>C | XP_016856485.1:p.Thr238= | |
| XM_017000997.1:c.714G>C | XP_016856486.1:p.Thr238= | |
| XM_017000998.1:c.714G>C | XP_016856487.1:p.Thr238= | |
| XM_017000999.1:c.186G>C | XP_016856488.1:p.Thr62= | |
| XM_017001000.2:c.186G>C | XP_016856489.1:p.Thr62= | |
| XM_017001001.1:c.13-4545G>C | XP_016856490.1:n.13-4545G>C | |
| XM_017001002.1:c.714G>C | XP_016856491.1:p.Thr238= | |
| XR_001737114.1:n.752G>C | ||
| XR_001737115.1:n.752G>C | ||
| NM_015102.5:c.714G>C MANE Select | NP_055917.1:p.Thr238= | |
| NM_001291593.2:c.-556-4545G>C | NP_001278522.1:n.-556-4545G>C | |
| NM_001291594.2:c.-653G>C | NP_001278523.1:n.-653G>C | |
| NR_111987.2:n.934G>C |