gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66426503 (EAS)
Genomes Max Group AF
0.6730639 (EAS)
Exomes Max Group AF
0.66110172 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.83961536T>C , CM000669.2:g.83961536T>C | GRCh38 |
| NC_000007.13:g.83590852T>C , CM000669.1:g.83590852T>C | GRCh37 |
| NC_000007.12:g.83428788T>C | NCBI36 |
| NG_011489.1:g.238366A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265362.9:c.2151A>G MANE Select | ENSP00000265362.3:p.Thr717= | |
| ENST00000265362.8:c.2151A>G | ENSP00000265362.3:p.Thr717= | |
| ENST00000436949.5:c.2151A>G | ENSP00000415260.1:p.Thr717= | |
| NM_006080.2:c.2151A>G | NP_006071.1:p.Thr717= | |
| XM_005250110.2:c.2151A>G | XP_005250167.1:p.Thr717= | |
| XM_005250111.3:c.2151A>G | XP_005250168.1:p.Thr717= | |
| XM_006715839.2:c.2151A>G | XP_006715902.1:p.Thr717= | |
| XM_011515734.1:c.2151A>G | XP_011514036.1:p.Thr717= | |
| XM_005250110.3:c.2151A>G | XP_005250167.1:p.Thr717= | |
| XM_005250111.4:c.2151A>G | XP_005250168.1:p.Thr717= | |
| XM_006715839.3:c.2151A>G | XP_006715902.1:p.Thr717= | |
| XM_011515734.3:c.2151A>G | XP_011514036.1:p.Thr717= | |
| XM_017011673.1:c.2151A>G | XP_016867162.1:p.Thr717= | |
| XM_024446633.1:c.2151A>G | XP_024302401.1:p.Thr717= | |
| NM_006080.3:c.2151A>G MANE Select | NP_006071.1:p.Thr717= |