Linked Data
dbSNP Id:
rs749287111
ExAC:
7:140453170 T / C
gnomAD v2:
7-140453170-T-C
gnomAD v4:
7-140753370-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140753370T>C , CM000669.2:g.140753370T>C | GRCh38 |
| NC_000007.13:g.140453170T>C , CM000669.1:g.140453170T>C | GRCh37 |
| NC_000007.12:g.140099639T>C | NCBI36 |
| NG_007873.3:g.176395A>G , LRG_299:g.176395A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646891.2:c.1765A>G MANE Select | ENSP00000493543.1:p.Thr589Ala | |
| ENST00000288602.11:c.1885A>G | ENSP00000288602.7:p.Thr629Ala | |
| ENST00000479537.6:c.435A>G | ||
| ENST00000496384.7:c.1765A>G | ENSP00000419060.2:p.Thr589Ala | |
| ENST00000497784.2:c.*1215A>G | ENSP00000420119.2:n.*1215A>G | |
| ENST00000642228.1:c.*843A>G | ENSP00000493678.1:n.*843A>G | |
| ENST00000642875.1:n.1259-3952A>G | ||
| ENST00000644120.1:n.2155A>G | ||
| ENST00000644650.1:c.861A>G | ||
| ENST00000644905.1:n.2647A>G | ||
| ENST00000644969.2:c.1885A>G MANE Plus Clinical | ENSP00000496776.1:p.Thr629Ala | |
| ENST00000646730.1:c.*341A>G | ENSP00000494784.1:n.*341A>G | |
| ENST00000646891.1:c.1765A>G | ENSP00000493543.1:p.Thr589Ala | |
| ENST00000647434.1:c.738-3952A>G | ENSP00000495132.1:n.738-3952A>G | |
| ENST00000288602.10:c.1765A>G | ENSP00000288602.6:p.Thr589Ala | |
| ENST00000479537.5:c.49A>G | ENSP00000418033.1:p.Thr17Ala | |
| ENST00000496384.6:c.588A>G | ||
| ENST00000497784.1:c.1800A>G | ENSP00000420119.1:n.1800A>G | |
| NM_004333.4:c.1765A>G , LRG_299t1:c.1765A>G | NP_004324.2:p.Thr589Ala | |
| XM_005250045.1:c.1765A>G | XP_005250102.1:p.Thr589Ala | |
| XM_005250046.1:c.1765A>G | XP_005250103.1:p.Thr589Ala | |
| XM_011516529.1:c.1765A>G | XP_011514831.1:p.Thr589Ala | |
| XM_011516530.1:c.1695-3952A>G | XP_011514832.1:n.1695-3952A>G | |
| XR_242190.1:n.1773A>G | ||
| XR_927520.1:n.1773A>G | ||
| XR_927521.1:n.1773A>G | ||
| XR_927522.1:n.1703-3952A>G | ||
| XR_927523.1:n.1703-3952A>G | ||
| NM_001354609.1:c.1765A>G | NP_001341538.1:p.Thr589Ala | |
| NM_004333.5:c.1765A>G | NP_004324.2:p.Thr589Ala | |
| NR_148928.1:n.2863A>G | ||
| XM_017012558.1:c.1885A>G | XP_016868047.1:p.Thr629Ala | |
| XM_017012559.1:c.1885A>G | XP_016868048.1:p.Thr629Ala | |
| XR_001744857.1:n.1893A>G | ||
| XR_001744858.1:n.1823-3952A>G | ||
| NM_001354609.2:c.1765A>G | NP_001341538.1:p.Thr589Ala | |
| NM_001374244.1:c.1885A>G | NP_001361173.1:p.Thr629Ala | |
| NM_001374258.1:c.1885A>G MANE Plus Clinical | NP_001361187.1:p.Thr629Ala | |
| NM_004333.6:c.1765A>G MANE Select | NP_004324.2:p.Thr589Ala | |
| NM_001378467.1:c.1774A>G | NP_001365396.1:p.Thr592Ala | |
| NM_001378468.1:c.1765A>G | NP_001365397.1:p.Thr589Ala | |
| NM_001378469.1:c.1699A>G | NP_001365398.1:p.Thr567Ala | |
| NM_001378470.1:c.1663A>G | NP_001365399.1:p.Thr555Ala | |
| NM_001378471.1:c.1654A>G | NP_001365400.1:p.Thr552Ala | |
| NM_001378472.1:c.1609A>G | NP_001365401.1:p.Thr537Ala | |
| NM_001378473.1:c.1609A>G | NP_001365402.1:p.Thr537Ala | |
| NM_001378474.1:c.1765A>G | NP_001365403.1:p.Thr589Ala | |
| NM_001378475.1:c.1501A>G | NP_001365404.1:p.Thr501Ala |