gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00026487 (SAS)
Genomes Max Group AF
0.00016885 (SAS)
Exomes Max Group AF
0.00025001 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151181233G>A , CM000669.2:g.151181233G>A | GRCh38 |
| NC_000007.13:g.150878320G>A , CM000669.1:g.150878320G>A | GRCh37 |
| NC_000007.12:g.150509253G>A | NCBI36 |
| NG_017016.1:g.11600C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420175.3:c.810C>T MANE Select | ENSP00000391137.2:p.Thr270= | |
| ENST00000275838.5:c.810C>T | ENSP00000275838.1:p.Thr270= | |
| ENST00000377867.7:c.765C>T | ENSP00000367098.3:p.Thr255= | |
| ENST00000420175.2:c.810C>T | ENSP00000391137.2:p.Thr270= | |
| NM_001142459.1:c.810C>T | NP_001135931.2:p.Thr270= | |
| NM_001142460.1:c.810C>T | NP_001135932.2:p.Thr270= | |
| NM_080871.3:c.765C>T | NP_543147.2:p.Thr255= | |
| XM_005249949.3:c.945C>T | XP_005250006.1:p.Thr315= | |
| NM_001142459.2:c.810C>T MANE Select | NP_001135931.2:p.Thr270= | |
| NM_080871.4:c.765C>T | NP_543147.2:p.Thr255= |