ClinGen Evidence Repository:
Classification
Benign
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00062801 (EAS)
Genomes Max Group AF
0.00006872 (EAS)
Exomes Max Group AF
0.00066652 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34792492C>A , CM000683.2:g.34792492C>A | GRCh38 |
| NC_000021.8:g.36164789C>A , CM000683.1:g.36164789C>A | GRCh37 |
| NC_000021.7:g.35086659C>A | NCBI36 |
| NG_011402.2:g.1197220G>T , LRG_482:g.1197220G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.1086G>T MANE Select | ENSP00000501943.1:p.Ser362= | |
| ENST00000300305.7:c.1086G>T | ENSP00000300305.3:p.Ser362= | |
| ENST00000344691.8:c.1005G>T | ENSP00000340690.4:p.Ser335= | |
| ENST00000399240.5:c.813G>T | ENSP00000382184.1:p.Ser271= | |
| ENST00000437180.5:c.1086G>T | ENSP00000409227.1:p.Ser362= | |
| ENST00000482318.5:c.*676G>T | ENSP00000477067.1:n.*676G>T | |
| NM_001001890.2:c.1005G>T | NP_001001890.1:p.Ser335= | |
| NM_001754.4:c.1086G>T , LRG_482t1:c.1086G>T | NP_001745.2:p.Ser362= | |
| XM_005261068.3:c.1050G>T | XP_005261125.1:p.Ser350= | |
| XM_005261069.3:c.894G>T | XP_005261126.1:p.Ser298= | |
| XM_011529766.1:c.1086G>T | XP_011528068.1:p.Ser362= | |
| XM_011529767.1:c.1047G>T | XP_011528069.1:p.Ser349= | |
| XM_011529768.1:c.855G>T | XP_011528070.1:p.Ser285= | |
| XM_005261069.4:c.894G>T | XP_005261126.1:p.Ser298= | |
| XM_011529766.2:c.1086G>T | XP_011528068.1:p.Ser362= | |
| XM_011529767.2:c.1047G>T | XP_011528069.1:p.Ser349= | |
| XM_011529768.2:c.855G>T | XP_011528070.1:p.Ser285= | |
| XM_017028487.1:c.933G>T | XP_016883976.1:p.Ser311= | |
| NM_001001890.3:c.1005G>T | NP_001001890.1:p.Ser335= | |
| NM_001754.5:c.1086G>T MANE Select | NP_001745.2:p.Ser362= |