Linked Data
ClinVar Variation Id:
466412
dbSNP Id:
rs145835282
ExAC:
3:100467160 A / G
gnomAD v2:
3-100467160-A-G
gnomAD v3:
3-100748316-A-G
gnomAD v4:
3-100748316-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.100748316A>G , CM000665.2:g.100748316A>G | GRCh38 |
| NC_000003.11:g.100467160A>G , CM000665.1:g.100467160A>G | GRCh37 |
| NC_000003.10:g.101949850A>G | NCBI36 |
| NG_027821.1:g.44027A>G | |
| NG_027821.2:g.44027A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240851.9:c.988A>G MANE Select | ENSP00000240851.4:p.Thr330Ala | |
| ENST00000418917.7:c.*158A>G | ENSP00000397182.3:n.*158A>G | |
| ENST00000463568.6:c.976A>G | ENSP00000419504.2:p.Thr326Ala | |
| ENST00000487505.6:c.988A>G | ENSP00000420797.2:p.Thr330Ala | |
| ENST00000490574.6:c.988A>G | ENSP00000419960.1:p.Thr330Ala | |
| ENST00000615993.2:c.*174A>G | ENSP00000479269.2:n.*174A>G | |
| ENST00000620299.5:c.*174A>G | ENSP00000479981.1:n.*174A>G | |
| ENST00000674615.1:c.988A>G | ENSP00000502734.1:p.Thr330Ala | |
| ENST00000674645.1:c.976A>G | ENSP00000501892.1:p.Thr326Ala | |
| ENST00000674699.1:c.*245A>G | ENSP00000502175.1:n.*245A>G | |
| ENST00000674758.1:c.976A>G | ENSP00000502502.1:p.Thr326Ala | |
| ENST00000674798.1:n.3835A>G | ||
| ENST00000675011.1:c.*283A>G | ENSP00000501745.1:n.*283A>G | |
| ENST00000675047.1:c.976A>G | ENSP00000502497.1:p.Thr326Ala | |
| ENST00000675243.1:c.988A>G | ENSP00000502592.1:p.Thr330Ala | |
| ENST00000675246.1:c.984A>G | ENSP00000501620.1:p.Thr328= | |
| ENST00000675420.1:c.976A>G | ENSP00000502516.1:p.Thr326Ala | |
| ENST00000675499.1:c.988A>G | ENSP00000502450.1:p.Thr330Ala | |
| ENST00000675543.1:c.*174A>G | ENSP00000502229.1:n.*174A>G | |
| ENST00000675553.1:c.988A>G | ENSP00000501815.1:p.Thr330Ala | |
| ENST00000675586.1:c.*174A>G | ENSP00000502329.1:n.*174A>G | |
| ENST00000675591.1:c.*545A>G | ENSP00000501641.1:n.*545A>G | |
| ENST00000675692.1:c.1024A>G | ENSP00000502034.1:p.Thr342Ala | |
| ENST00000675890.1:c.*158A>G | ENSP00000502537.1:n.*158A>G | |
| ENST00000675958.1:c.*158A>G | ENSP00000502025.1:n.*158A>G | |
| ENST00000676010.1:n.5216A>G | ||
| ENST00000676054.1:c.*245A>G | ENSP00000502051.1:n.*245A>G | |
| ENST00000676111.1:c.*174A>G | ENSP00000502139.1:n.*174A>G | |
| ENST00000676276.1:c.*222A>G | ENSP00000502372.1:n.*222A>G | |
| ENST00000676308.1:c.*174A>G | ENSP00000502697.1:n.*174A>G | |
| ENST00000676395.1:c.988A>G | ENSP00000502071.1:p.Thr330Ala | |
| ENST00000676431.1:c.976A>G | ENSP00000502698.1:p.Thr326Ala | |
| ENST00000240851.8:c.988A>G | ENSP00000240851.4:p.Thr330Ala | |
| ENST00000418917.6:c.976A>G | ENSP00000397182.2:p.Thr326Ala | |
| ENST00000476228.5:c.976A>G | ENSP00000417952.1:p.Thr326Ala | |
| ENST00000481203.1:n.2624A>G | ||
| ENST00000490574.5:c.988A>G | ENSP00000419960.1:p.Thr330Ala | |
| ENST00000612059.4:c.975A>G | ENSP00000477562.1:p.Thr325= | |
| ENST00000615993.1:c.1029A>G | ENSP00000479269.1:n.1029A>G | |
| NM_001007565.2:c.988A>G | NP_001007566.1:p.Thr330Ala | |
| NM_001195478.1:c.988A>G | NP_001182407.1:p.Thr330Ala | |
| NM_001195479.1:c.976A>G | NP_001182408.1:p.Thr326Ala | |
| NM_006070.5:c.988A>G | NP_006061.2:p.Thr330Ala | |
| XM_005247066.1:c.976A>G | XP_005247123.1:p.Thr326Ala | |
| XM_006713472.1:c.988A>G | XP_006713535.1:p.Thr330Ala | |
| XM_006713473.1:c.988A>G | XP_006713536.1:p.Thr330Ala | |
| XM_011512334.1:c.988A>G | XP_011510636.1:p.Thr330Ala | |
| XM_005247066.2:c.976A>G | XP_005247123.1:p.Thr326Ala | |
| XM_017005527.1:c.976A>G | XP_016861016.1:p.Thr326Ala | |
| NM_006070.6:c.988A>G MANE Select | NP_006061.2:p.Thr330Ala | |
| NM_001195478.2:c.988A>G | NP_001182407.1:p.Thr330Ala | |
| NM_001195479.2:c.976A>G | NP_001182408.1:p.Thr326Ala |