ClinGen Evidence Repository:
Classification
Likely Benign
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00043276 (MID)
Genomes Max Group AF
0.00004742 (AFR)
Exomes Max Group AF
0.00070032 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34792594T>C , CM000683.2:g.34792594T>C | GRCh38 |
| NC_000021.8:g.36164891T>C , CM000683.1:g.36164891T>C | GRCh37 |
| NC_000021.7:g.35086761T>C | NCBI36 |
| NG_011402.2:g.1197118A>G , LRG_482:g.1197118A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.984A>G MANE Select | ENSP00000501943.1:p.Thr328= | |
| ENST00000300305.7:c.984A>G | ENSP00000300305.3:p.Thr328= | |
| ENST00000344691.8:c.903A>G | ENSP00000340690.4:p.Thr301= | |
| ENST00000399240.5:c.711A>G | ENSP00000382184.1:p.Thr237= | |
| ENST00000437180.5:c.984A>G | ENSP00000409227.1:p.Thr328= | |
| ENST00000482318.5:c.*574A>G | ENSP00000477067.1:n.*574A>G | |
| NM_001001890.2:c.903A>G | NP_001001890.1:p.Thr301= | |
| NM_001754.4:c.984A>G , LRG_482t1:c.984A>G | NP_001745.2:p.Thr328= | |
| XM_005261068.3:c.948A>G | XP_005261125.1:p.Thr316= | |
| XM_005261069.3:c.792A>G | XP_005261126.1:p.Thr264= | |
| XM_011529766.1:c.984A>G | XP_011528068.1:p.Thr328= | |
| XM_011529767.1:c.945A>G | XP_011528069.1:p.Thr315= | |
| XM_011529768.1:c.753A>G | XP_011528070.1:p.Thr251= | |
| XR_937576.1:n.4588A>G | ||
| XM_005261069.4:c.792A>G | XP_005261126.1:p.Thr264= | |
| XM_011529766.2:c.984A>G | XP_011528068.1:p.Thr328= | |
| XM_011529767.2:c.945A>G | XP_011528069.1:p.Thr315= | |
| XM_011529768.2:c.753A>G | XP_011528070.1:p.Thr251= | |
| XM_017028487.1:c.831A>G | XP_016883976.1:p.Thr277= | |
| XR_937576.2:n.4635A>G | ||
| NM_001001890.3:c.903A>G | NP_001001890.1:p.Thr301= | |
| NM_001754.5:c.984A>G MANE Select | NP_001745.2:p.Thr328= |