Linked Data
ClinVar Variation Id:
538563
dbSNP Id:
rs200068321
ExAC:
11:77815090 T / C
gnomAD v2:
11-77815090-T-C
gnomAD v3:
11-78104044-T-C
gnomAD v4:
11-78104044-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.78104044T>C , CM000673.2:g.78104044T>C | GRCh38 |
| NC_000011.9:g.77815090T>C , CM000673.1:g.77815090T>C | GRCh37 |
| NC_000011.8:g.77492738T>C | NCBI36 |
| NG_008926.1:g.40610A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299626.10:c.1285A>G MANE Select | ENSP00000299626.5:p.Ile429Val | |
| ENST00000524925.2:n.1363A>G | ||
| ENST00000525761.3:c.1021A>G | ENSP00000431357.3:p.Ile341Val | |
| ENST00000525783.6:c.1021A>G | ENSP00000434066.2:p.Ile341Val | |
| ENST00000525870.6:c.1039-2849A>G | ENSP00000435417.2:n.1039-2849A>G | |
| ENST00000526737.6:c.*816A>G | ENSP00000436366.2:n.*816A>G | |
| ENST00000526849.6:c.1189A>G | ENSP00000434388.2:p.Ile397Val | |
| ENST00000527099.2:c.1021A>G | ENSP00000436064.2:p.Ile341Val | |
| ENST00000529139.6:c.1111A>G | ENSP00000432953.2:p.Ile371Val | |
| ENST00000530608.6:c.1084A>G | ENSP00000432381.2:p.Ile362Val | |
| ENST00000530910.6:c.1021A>G | ENSP00000437033.2:p.Ile341Val | |
| ENST00000532306.6:c.1024A>G | ENSP00000435626.2:p.Ile342Val | |
| ENST00000532440.6:c.1333A>G | ENSP00000433429.2:p.Ile445Val | |
| ENST00000615266.5:c.1276+312A>G | ENSP00000480742.2:n.1276+312A>G | |
| ENST00000679444.1:c.1021A>G | ENSP00000506099.1:p.Ile341Val | |
| ENST00000679497.1:c.1021A>G | ENSP00000505407.1:p.Ile341Val | |
| ENST00000679539.1:c.1187A>G | ENSP00000504910.1:p.His396Arg | |
| ENST00000679559.1:c.1285A>G | ENSP00000505433.1:p.Ile429Val | |
| ENST00000679581.1:n.1987A>G | ||
| ENST00000679648.1:c.*816A>G | ENSP00000505726.1:n.*816A>G | |
| ENST00000679685.1:c.*635A>G | ENSP00000505698.1:n.*635A>G | |
| ENST00000679697.1:c.*63A>G | ENSP00000505696.1:n.*63A>G | |
| ENST00000679874.1:c.*782A>G | ENSP00000506314.1:n.*782A>G | |
| ENST00000679986.1:c.*816A>G | ENSP00000505614.1:n.*816A>G | |
| ENST00000680063.1:c.*816A>G | ENSP00000504928.1:n.*816A>G | |
| ENST00000680101.1:c.1021A>G | ENSP00000504917.1:p.Ile341Val | |
| ENST00000680142.1:n.1117A>G | ||
| ENST00000680223.1:c.*168A>G | ENSP00000505023.1:n.*168A>G | |
| ENST00000680256.1:c.1288A>G | ENSP00000505074.1:p.Ile430Val | |
| ENST00000680329.1:c.1021A>G | ENSP00000506215.1:p.Ile341Val | |
| ENST00000680398.1:c.1285A>G | ENSP00000506189.1:p.Ile429Val | |
| ENST00000680399.1:c.1111A>G | ENSP00000505984.1:p.Ile371Val | |
| ENST00000680459.1:c.*908A>G | ENSP00000506617.1:n.*908A>G | |
| ENST00000680467.1:c.*221A>G | ENSP00000505609.1:n.*221A>G | |
| ENST00000680499.1:c.1021A>G | ENSP00000506092.1:p.Ile341Val | |
| ENST00000680580.1:c.1021A>G | ENSP00000506170.1:p.Ile341Val | |
| ENST00000680643.1:c.1285A>G | ENSP00000505207.1:p.Ile429Val | |
| ENST00000680761.1:c.1021A>G | ENSP00000506421.1:p.Ile341Val | |
| ENST00000680797.1:c.*782A>G | ENSP00000506717.1:n.*782A>G | |
| ENST00000680829.1:c.1021A>G | ENSP00000506408.1:p.Ile341Val | |
| ENST00000680866.1:c.*186A>G | ENSP00000505649.1:n.*186A>G | |
| ENST00000680996.1:c.*186A>G | ENSP00000505468.1:n.*186A>G | |
| ENST00000681221.1:c.1021A>G | ENSP00000505136.1:p.Ile341Val | |
| ENST00000681225.1:c.1021A>G | ENSP00000505016.1:p.Ile341Val | |
| ENST00000681351.1:c.*186A>G | ENSP00000506652.1:n.*186A>G | |
| ENST00000681384.1:c.*221A>G | ENSP00000506249.1:n.*221A>G | |
| ENST00000681417.1:c.1021A>G | ENSP00000505965.1:p.Ile341Val | |
| ENST00000681489.1:c.1021A>G | ENSP00000505200.1:p.Ile341Val | |
| ENST00000681575.1:c.1021A>G | ENSP00000505743.1:p.Ile341Val | |
| ENST00000681699.1:c.1114A>G | ENSP00000504969.1:p.Ile372Val | |
| ENST00000681723.1:c.*186A>G | ENSP00000506059.1:n.*186A>G | |
| ENST00000681765.1:c.847A>G | ENSP00000505811.1:p.Ile283Val | |
| ENST00000681853.1:n.1979A>G | ||
| ENST00000681957.1:c.*186A>G | ENSP00000506056.1:n.*186A>G | |
| ENST00000299626.9:c.1285A>G | ENSP00000299626.5:p.Ile429Val | |
| ENST00000376156.7:c.1285A>G | ENSP00000365326.3:p.Ile429Val | |
| ENST00000525783.5:c.243-2849A>G | ||
| ENST00000526737.5:c.*917A>G | ENSP00000436366.1:n.*917A>G | |
| ENST00000526849.5:c.298A>G | ENSP00000434388.1:p.Ile100Val | |
| ENST00000530608.5:c.390A>G | ||
| ENST00000531213.5:n.203A>G | ||
| ENST00000532306.5:c.645A>G | ||
| ENST00000532552.2:n.474A>G | ||
| ENST00000615266.4:c.1285A>G | ENSP00000480742.1:p.Ile429Val | |
| NM_001007027.2:c.1285A>G | NP_001007028.1:p.Ile429Val | |
| NM_024079.4:c.1285A>G | NP_076984.2:p.Ile429Val | |
| XM_005274247.2:c.1258A>G | XP_005274304.1:p.Ile420Val | |
| XM_011545251.1:c.1111A>G | XP_011543553.1:p.Ile371Val | |
| XM_011545252.1:c.1021A>G | XP_011543554.1:p.Ile341Val | |
| XR_428923.2:n.1323A>G | ||
| XR_950044.1:n.1217A>G | ||
| XR_950045.1:n.1217A>G | ||
| XM_005274247.3:c.1258A>G | XP_005274304.1:p.Ile420Val | |
| XM_011545252.2:c.1021A>G | XP_011543554.1:p.Ile341Val | |
| XM_017018274.1:c.1258A>G | XP_016873763.1:p.Ile420Val | |
| XR_001747956.1:n.2073A>G | ||
| XR_428923.4:n.1306A>G | ||
| XR_950044.3:n.1200A>G | ||
| XR_950045.3:n.1200A>G | ||
| NM_024079.5:c.1285A>G MANE Select | NP_076984.2:p.Ile429Val | |
| NM_001007027.3:c.1285A>G | NP_001007028.1:p.Ile429Val |