|
ENST00000423275.6:c.*978C>T
|
ENSP00000401088.1:n.*978C>T
|
|
|
ENST00000432427.3:c.630C>T
|
|
|
|
ENST00000460610.2:n.107C>T
|
|
|
|
ENST00000465826.6:n.904C>T
|
|
|
|
ENST00000475353.2:n.1235C>T
|
|
|
|
ENST00000494557.2:n.1124C>T
|
|
|
|
ENST00000684903.1:c.*990C>T
|
ENSP00000508612.1:n.*990C>T
|
|
|
ENST00000685348.1:c.*990C>T
|
ENSP00000510285.1:n.*990C>T
|
|
|
ENST00000685437.1:c.1214C>T
|
ENSP00000508794.1:p.Thr405Ile
|
|
|
ENST00000685653.1:c.1313C>T
|
ENSP00000509968.1:p.Thr438Ile
|
|
|
ENST00000685738.1:c.*277C>T
|
ENSP00000510156.1:n.*277C>T
|
|
|
ENST00000686409.1:n.2364C>T
|
|
|
|
ENST00000686455.1:n.1676C>T
|
|
|
|
ENST00000686762.1:c.1313C>T
|
ENSP00000509767.1:p.Thr438Ile
|
|
|
ENST00000687257.1:n.1549C>T
|
|
|
|
ENST00000687326.1:c.*247C>T
|
ENSP00000509665.1:n.*247C>T
|
|
|
ENST00000687505.1:n.1431C>T
|
|
|
|
ENST00000687923.1:c.1202C>T
|
ENSP00000510255.1:p.Thr401Ile
|
|
|
ENST00000687940.1:n.1690C>T
|
|
|
|
ENST00000688269.1:n.1909C>T
|
|
|
|
ENST00000688326.1:c.746C>T
|
|
|
|
ENST00000688444.1:n.1639C>T
|
|
|
|
ENST00000688543.1:c.1214C>T
|
ENSP00000509612.1:p.Thr405Ile
|
|
|
ENST00000688625.1:c.*891C>T
|
ENSP00000509522.1:n.*891C>T
|
|
|
ENST00000688803.1:n.1544C>T
|
|
|
|
ENST00000688914.1:n.299C>T
|
|
|
|
ENST00000689097.1:c.*990C>T
|
ENSP00000509756.1:n.*990C>T
|
|
|
ENST00000689389.1:c.1193+853C>T
|
ENSP00000510213.1:n.1193+853C>T
|
|
|
ENST00000689418.1:c.*990C>T
|
ENSP00000509467.1:n.*990C>T
|
|
|
ENST00000689481.1:c.*990C>T
|
ENSP00000510248.1:n.*990C>T
|
|
|
ENST00000689540.1:n.1463C>T
|
|
|
|
ENST00000689876.1:c.1313C>T
|
ENSP00000508535.1:p.Thr438Ile
|
|
|
ENST00000689914.1:c.*247C>T
|
ENSP00000509847.1:n.*247C>T
|
|
|
ENST00000690397.1:c.1202C>T
|
ENSP00000508730.1:p.Thr401Ile
|
|
|
ENST00000690460.1:c.1301C>T
|
ENSP00000509106.1:p.Thr434Ile
|
|
|
ENST00000690585.1:c.205C>T
|
|
|
|
ENST00000690625.1:n.2349C>T
|
|
|
|
ENST00000691396.1:c.*1165C>T
|
ENSP00000510712.1:n.*1165C>T
|
|
|
ENST00000691724.1:c.*270C>T
|
ENSP00000509255.1:n.*270C>T
|
|
|
ENST00000691779.1:c.*891C>T
|
ENSP00000508592.1:n.*891C>T
|
|
|
ENST00000691888.1:c.205C>T
|
|
|
|
ENST00000691899.1:c.1313C>T
|
ENSP00000508763.1:p.Thr438Ile
|
|
|
ENST00000692069.1:n.1879C>T
|
|
|
|
ENST00000692093.1:c.1214C>T
|
ENSP00000509669.1:p.Thr405Ile
|
|
|
ENST00000692311.1:n.2137C>T
|
|
|
|
ENST00000692558.1:n.1678C>T
|
|
|
|
ENST00000692773.1:c.*1050C>T
|
ENSP00000509055.1:n.*1050C>T
|
|
|
ENST00000692830.1:c.*1058C>T
|
ENSP00000509461.1:n.*1058C>T
|
|
|
ENST00000693069.1:c.*247C>T
|
ENSP00000510072.1:n.*247C>T
|
|
|
ENST00000693312.1:c.1088C>T
|
ENSP00000508686.1:p.Thr363Ile
|
|
|
ENST00000693664.1:c.1313C>T
|
ENSP00000509614.1:p.Thr438Ile
|
|
|
ENST00000693705.1:c.*990C>T
|
ENSP00000510697.1:n.*990C>T
|
|
|
ENST00000251849.9:c.1313C>T
MANE Select
|
ENSP00000251849.4:p.Thr438Ile
|
|
|
ENST00000442415.7:c.1373C>T
|
ENSP00000401888.2:p.Thr458Ile
|
|
|
ENST00000251849.8:c.1313C>T
|
ENSP00000251849.4:p.Thr438Ile
|
|
|
ENST00000423275.5:c.*990C>T
|
ENSP00000401088.1:n.*990C>T
|
|
|
ENST00000432427.2:c.950C>T
|
ENSP00000398591.2:p.Thr317Ile
|
|
|
ENST00000442415.6:c.1373C>T
|
ENSP00000401888.2:p.Thr458Ile
|
|
|
ENST00000460610.1:n.270C>T
|
|
|
|
ENST00000465826.5:n.670C>T
|
|
|
|
ENST00000475353.1:n.481C>T
|
|
|
|
ENST00000494557.1:n.329C>T
|
|
|
|
NM_002880.3:c.1313C>T , LRG_413t1:c.1313C>T
|
NP_002871.1:p.Thr438Ile
|
|
|
XM_005265355.1:c.1313C>T
|
XP_005265412.1:p.Thr438Ile
|
|
|
XM_005265357.1:c.1214C>T
|
XP_005265414.1:p.Thr405Ile
|
|
|
XM_005265358.3:c.1070C>T
|
XP_005265415.1:p.Thr357Ile
|
|
|
XM_005265359.3:c.971C>T
|
XP_005265416.1:p.Thr324Ile
|
|
|
XM_005265360.1:c.1313C>T
|
XP_005265417.1:p.Thr438Ile
|
|
|
XM_011533974.1:c.1313C>T
|
XP_011532276.1:p.Thr438Ile
|
|
|
XM_011533975.1:c.1070C>T
|
XP_011532277.1:p.Thr357Ile
|
|
|
NM_001354689.1:c.1373C>T
|
NP_001341618.1:p.Thr458Ile
|
|
|
NM_001354690.1:c.1313C>T
|
NP_001341619.1:p.Thr438Ile
|
|
|
NM_001354691.1:c.1070C>T
|
NP_001341620.1:p.Thr357Ile
|
|
|
NM_001354692.1:c.1070C>T
|
NP_001341621.1:p.Thr357Ile
|
|
|
NM_001354693.1:c.1214C>T
|
NP_001341622.1:p.Thr405Ile
|
|
|
NM_001354694.1:c.1130C>T
|
NP_001341623.1:p.Thr377Ile
|
|
|
NM_001354695.1:c.971C>T
|
NP_001341624.1:p.Thr324Ile
|
|
|
NR_148940.1:n.1841C>T
|
|
|
|
NR_148941.1:n.1787C>T
|
|
|
|
NR_148942.1:n.1726C>T
|
|
|
|
XM_011533974.3:c.1313C>T
|
XP_011532276.1:p.Thr438Ile
|
|
|
XM_017006966.1:c.1214C>T
|
XP_016862455.1:p.Thr405Ile
|
|
|
NM_001354689.3:c.1373C>T
|
NP_001341618.1:p.Thr458Ile
|
|
|
NM_001354690.2:c.1313C>T
|
NP_001341619.1:p.Thr438Ile
|
|
|
NM_001354691.2:c.1070C>T
|
NP_001341620.1:p.Thr357Ile
|
|
|
NM_001354692.2:c.1070C>T
|
NP_001341621.1:p.Thr357Ile
|
|
|
NM_001354693.2:c.1214C>T
|
NP_001341622.1:p.Thr405Ile
|
|
|
NM_001354694.2:c.1130C>T
|
NP_001341623.1:p.Thr377Ile
|
|
|
NM_001354695.2:c.971C>T
|
NP_001341624.1:p.Thr324Ile
|
|
|
NR_148940.2:n.1757C>T
|
|
|
|
NR_148941.2:n.1703C>T
|
|
|
|
NR_148942.2:n.1642C>T
|
|
|
|
NM_001354690.3:c.1313C>T
|
NP_001341619.1:p.Thr438Ile
|
|
|
NM_001354691.3:c.1070C>T
|
NP_001341620.1:p.Thr357Ile
|
|
|
NM_001354692.3:c.1070C>T
|
NP_001341621.1:p.Thr357Ile
|
|
|
NM_001354693.3:c.1214C>T
|
NP_001341622.1:p.Thr405Ile
|
|
|
NM_001354694.3:c.1130C>T
|
NP_001341623.1:p.Thr377Ile
|
|
|
NM_001354695.3:c.971C>T
|
NP_001341624.1:p.Thr324Ile
|
|
|
NM_002880.4:c.1313C>T
MANE Select
|
NP_002871.1:p.Thr438Ile
|
|
|
NR_148940.3:n.1757C>T
|
|
|
|
NR_148941.3:n.1703C>T
|
|
|
|
NR_148942.3:n.1642C>T
|
|
|
