Linked Data
ClinVar Variation Id:
306213
dbSNP Id:
rs146603801
ExAC:
11:77815467 G / A
gnomAD v2:
11-77815467-G-A
gnomAD v3:
11-78104421-G-A
gnomAD v4:
11-78104421-G-A
COSMIC:
COSM3687660
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.78104421G>A , CM000673.2:g.78104421G>A | GRCh38 |
| NC_000011.9:g.77815467G>A , CM000673.1:g.77815467G>A | GRCh37 |
| NC_000011.8:g.77493115G>A | NCBI36 |
| NG_008926.1:g.40233C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299626.10:c.1211C>T MANE Select | ENSP00000299626.5:p.Ser404Leu | |
| ENST00000524925.2:n.1289C>T | ||
| ENST00000525761.3:c.947C>T | ENSP00000431357.3:p.Ser316Leu | |
| ENST00000525783.6:c.947C>T | ENSP00000434066.2:p.Ser316Leu | |
| ENST00000525870.6:c.1039-3226C>T | ENSP00000435417.2:n.1039-3226C>T | |
| ENST00000526737.6:c.*742C>T | ENSP00000436366.2:n.*742C>T | |
| ENST00000526849.6:c.1115C>T | ENSP00000434388.2:p.Ser372Leu | |
| ENST00000527099.2:c.947C>T | ENSP00000436064.2:p.Ser316Leu | |
| ENST00000529139.6:c.1037C>T | ENSP00000432953.2:p.Ser346Leu | |
| ENST00000530608.6:c.1010C>T | ENSP00000432381.2:p.Ser337Leu | |
| ENST00000530910.6:c.947C>T | ENSP00000437033.2:p.Ser316Leu | |
| ENST00000532306.6:c.950C>T | ENSP00000435626.2:p.Ser317Leu | |
| ENST00000532440.6:c.1259C>T | ENSP00000433429.2:p.Ser420Leu | |
| ENST00000615266.5:c.1211C>T | ENSP00000480742.2:p.Ser404Leu | |
| ENST00000679444.1:c.947C>T | ENSP00000506099.1:p.Ser316Leu | |
| ENST00000679497.1:c.947C>T | ENSP00000505407.1:p.Ser316Leu | |
| ENST00000679539.1:c.1179-369C>T | ENSP00000504910.1:n.1179-369C>T | |
| ENST00000679559.1:c.1211C>T | ENSP00000505433.1:p.Ser404Leu | |
| ENST00000679581.1:n.1913C>T | ||
| ENST00000679648.1:c.*742C>T | ENSP00000505726.1:n.*742C>T | |
| ENST00000679685.1:c.*561C>T | ENSP00000505698.1:n.*561C>T | |
| ENST00000679697.1:c.931C>T | ENSP00000505696.1:p.Arg311Ter | |
| ENST00000679874.1:c.*708C>T | ENSP00000506314.1:n.*708C>T | |
| ENST00000679986.1:c.*742C>T | ENSP00000505614.1:n.*742C>T | |
| ENST00000680063.1:c.*742C>T | ENSP00000504928.1:n.*742C>T | |
| ENST00000680101.1:c.947C>T | ENSP00000504917.1:p.Ser316Leu | |
| ENST00000680142.1:n.1043C>T | ||
| ENST00000680223.1:c.*94C>T | ENSP00000505023.1:n.*94C>T | |
| ENST00000680256.1:c.1214C>T | ENSP00000505074.1:p.Ser405Leu | |
| ENST00000680329.1:c.947C>T | ENSP00000506215.1:p.Ser316Leu | |
| ENST00000680398.1:c.1211C>T | ENSP00000506189.1:p.Ser404Leu | |
| ENST00000680399.1:c.1037C>T | ENSP00000505984.1:p.Ser346Leu | |
| ENST00000680459.1:c.*834C>T | ENSP00000506617.1:n.*834C>T | |
| ENST00000680467.1:c.*147C>T | ENSP00000505609.1:n.*147C>T | |
| ENST00000680499.1:c.947C>T | ENSP00000506092.1:p.Ser316Leu | |
| ENST00000680580.1:c.947C>T | ENSP00000506170.1:p.Ser316Leu | |
| ENST00000680643.1:c.1211C>T | ENSP00000505207.1:p.Ser404Leu | |
| ENST00000680761.1:c.947C>T | ENSP00000506421.1:p.Ser316Leu | |
| ENST00000680797.1:c.*708C>T | ENSP00000506717.1:n.*708C>T | |
| ENST00000680829.1:c.947C>T | ENSP00000506408.1:p.Ser316Leu | |
| ENST00000680866.1:c.*112C>T | ENSP00000505649.1:n.*112C>T | |
| ENST00000680996.1:c.*112C>T | ENSP00000505468.1:n.*112C>T | |
| ENST00000681221.1:c.947C>T | ENSP00000505136.1:p.Ser316Leu | |
| ENST00000681225.1:c.947C>T | ENSP00000505016.1:p.Ser316Leu | |
| ENST00000681351.1:c.*112C>T | ENSP00000506652.1:n.*112C>T | |
| ENST00000681384.1:c.*147C>T | ENSP00000506249.1:n.*147C>T | |
| ENST00000681417.1:c.947C>T | ENSP00000505965.1:p.Ser316Leu | |
| ENST00000681489.1:c.947C>T | ENSP00000505200.1:p.Ser316Leu | |
| ENST00000681575.1:c.947C>T | ENSP00000505743.1:p.Ser316Leu | |
| ENST00000681699.1:c.1040C>T | ENSP00000504969.1:p.Ser347Leu | |
| ENST00000681723.1:c.*112C>T | ENSP00000506059.1:n.*112C>T | |
| ENST00000681765.1:c.773C>T | ENSP00000505811.1:p.Ser258Leu | |
| ENST00000681853.1:n.1905C>T | ||
| ENST00000681957.1:c.*112C>T | ENSP00000506056.1:n.*112C>T | |
| ENST00000299626.9:c.1211C>T | ENSP00000299626.5:p.Ser404Leu | |
| ENST00000376156.7:c.1211C>T | ENSP00000365326.3:p.Ser404Leu | |
| ENST00000525783.5:c.243-3226C>T | ||
| ENST00000526737.5:c.*843C>T | ENSP00000436366.1:n.*843C>T | |
| ENST00000526849.5:c.224C>T | ENSP00000434388.1:p.Ser75Leu | |
| ENST00000530608.5:c.316C>T | ||
| ENST00000531213.5:n.129C>T | ||
| ENST00000532306.5:c.571C>T | ||
| ENST00000532552.2:n.400C>T | ||
| ENST00000615266.4:c.1211C>T | ENSP00000480742.1:p.Ser404Leu | |
| NM_001007027.2:c.1211C>T | NP_001007028.1:p.Ser404Leu | |
| NM_024079.4:c.1211C>T | NP_076984.2:p.Ser404Leu | |
| XM_005274247.2:c.1184C>T | XP_005274304.1:p.Ser395Leu | |
| XM_011545251.1:c.1037C>T | XP_011543553.1:p.Ser346Leu | |
| XM_011545252.1:c.947C>T | XP_011543554.1:p.Ser316Leu | |
| XR_428923.2:n.1249C>T | ||
| XR_950044.1:n.1143C>T | ||
| XR_950045.1:n.1143C>T | ||
| XM_005274247.3:c.1184C>T | XP_005274304.1:p.Ser395Leu | |
| XM_011545252.2:c.947C>T | XP_011543554.1:p.Ser316Leu | |
| XM_017018274.1:c.1184C>T | XP_016873763.1:p.Ser395Leu | |
| XR_001747956.1:n.1999C>T | ||
| XR_428923.4:n.1232C>T | ||
| XR_950044.3:n.1126C>T | ||
| XR_950045.3:n.1126C>T | ||
| NM_024079.5:c.1211C>T MANE Select | NP_076984.2:p.Ser404Leu | |
| NM_001007027.3:c.1211C>T | NP_001007028.1:p.Ser404Leu |