ClinGen Classification:
Classification
Likely Benign
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00011993 (AMR)
Genomes Max Group AF
0.00005288 (AMR)
Exomes Max Group AF
0.00011091 (AMR)
Revel Score:
ENST00000344691
0.067
ENST00000300305
0.067
ENST00000437180
0.067
ENST00000325074
0.067
ENST00000399240
0.067
ENST00000431176
0.067
ENST00000399245
0.067
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34792593C>T , CM000683.2:g.34792593C>T | GRCh38 |
| NC_000021.8:g.36164890C>T , CM000683.1:g.36164890C>T | GRCh37 |
| NC_000021.7:g.35086760C>T | NCBI36 |
| NG_011402.2:g.1197119G>A , LRG_482:g.1197119G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.985G>A MANE Select | ENSP00000501943.1:p.Ala329Thr | |
| ENST00000300305.7:c.985G>A | ENSP00000300305.3:p.Ala329Thr | |
| ENST00000344691.8:c.904G>A | ENSP00000340690.4:p.Ala302Thr | |
| ENST00000399240.5:c.712G>A | ENSP00000382184.1:p.Ala238Thr | |
| ENST00000437180.5:c.985G>A | ENSP00000409227.1:p.Ala329Thr | |
| ENST00000482318.5:c.*575G>A | ENSP00000477067.1:n.*575G>A | |
| NM_001001890.2:c.904G>A | NP_001001890.1:p.Ala302Thr | |
| NM_001754.4:c.985G>A , LRG_482t1:c.985G>A | NP_001745.2:p.Ala329Thr | |
| XM_005261068.3:c.949G>A | XP_005261125.1:p.Ala317Thr | |
| XM_005261069.3:c.793G>A | XP_005261126.1:p.Ala265Thr | |
| XM_011529766.1:c.985G>A | XP_011528068.1:p.Ala329Thr | |
| XM_011529767.1:c.946G>A | XP_011528069.1:p.Ala316Thr | |
| XM_011529768.1:c.754G>A | XP_011528070.1:p.Ala252Thr | |
| XR_937576.1:n.4589G>A | ||
| XM_005261069.4:c.793G>A | XP_005261126.1:p.Ala265Thr | |
| XM_011529766.2:c.985G>A | XP_011528068.1:p.Ala329Thr | |
| XM_011529767.2:c.946G>A | XP_011528069.1:p.Ala316Thr | |
| XM_011529768.2:c.754G>A | XP_011528070.1:p.Ala252Thr | |
| XM_017028487.1:c.832G>A | XP_016883976.1:p.Ala278Thr | |
| XR_937576.2:n.4636G>A | ||
| NM_001001890.3:c.904G>A | NP_001001890.1:p.Ala302Thr | |
| NM_001754.5:c.985G>A MANE Select | NP_001745.2:p.Ala329Thr |