ClinGen Classification:
Classification
Likely Benign
ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Exomes Max Group AF
0.00000989 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34799368C>T , CM000683.2:g.34799368C>T | GRCh38 |
| NC_000021.8:g.36171665C>T , CM000683.1:g.36171665C>T | GRCh37 |
| NC_000021.7:g.35093535C>T | NCBI36 |
| NG_011402.2:g.1190344G>A , LRG_482:g.1190344G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.900G>A MANE Select | ENSP00000501943.1:p.Thr300= | |
| ENST00000300305.7:c.900G>A | ENSP00000300305.3:p.Thr300= | |
| ENST00000344691.8:c.819G>A | ENSP00000340690.4:p.Thr273= | |
| ENST00000399240.5:c.627G>A | ENSP00000382184.1:p.Thr209= | |
| ENST00000437180.5:c.900G>A | ENSP00000409227.1:p.Thr300= | |
| ENST00000482318.5:c.*490G>A | ENSP00000477067.1:n.*490G>A | |
| NM_001001890.2:c.819G>A | NP_001001890.1:p.Thr273= | |
| NM_001754.4:c.900G>A , LRG_482t1:c.900G>A | NP_001745.2:p.Thr300= | |
| XM_005261068.3:c.864G>A | XP_005261125.1:p.Thr288= | |
| XM_005261069.3:c.708G>A | XP_005261126.1:p.Thr236= | |
| XM_011529766.1:c.900G>A | XP_011528068.1:p.Thr300= | |
| XM_011529767.1:c.861G>A | XP_011528069.1:p.Thr287= | |
| XM_011529768.1:c.669G>A | XP_011528070.1:p.Thr223= | |
| XR_937576.1:n.1079G>A | ||
| XM_005261069.4:c.708G>A | XP_005261126.1:p.Thr236= | |
| XM_011529766.2:c.900G>A | XP_011528068.1:p.Thr300= | |
| XM_011529767.2:c.861G>A | XP_011528069.1:p.Thr287= | |
| XM_011529768.2:c.669G>A | XP_011528070.1:p.Thr223= | |
| XM_017028487.1:c.747G>A | XP_016883976.1:p.Thr249= | |
| XR_937576.2:n.1126G>A | ||
| NM_001001890.3:c.819G>A | NP_001001890.1:p.Thr273= | |
| NM_001754.5:c.900G>A MANE Select | NP_001745.2:p.Thr300= |