|
ENST00000423275.6:c.*1020C>G
|
ENSP00000401088.1:n.*1020C>G
|
|
|
ENST00000432427.3:c.672C>G
|
|
|
|
ENST00000460610.2:n.149C>G
|
|
|
|
ENST00000465826.6:n.946C>G
|
|
|
|
ENST00000475353.2:n.1277C>G
|
|
|
|
ENST00000494557.2:n.1166C>G
|
|
|
|
ENST00000684903.1:c.*1032C>G
|
ENSP00000508612.1:n.*1032C>G
|
|
|
ENST00000685348.1:c.*1032C>G
|
ENSP00000510285.1:n.*1032C>G
|
|
|
ENST00000685437.1:c.1256C>G
|
ENSP00000508794.1:p.Thr419Arg
|
|
|
ENST00000685653.1:c.1355C>G
|
ENSP00000509968.1:p.Thr452Arg
|
|
|
ENST00000685738.1:c.*319C>G
|
ENSP00000510156.1:n.*319C>G
|
|
|
ENST00000686409.1:n.2406C>G
|
|
|
|
ENST00000686455.1:n.1718C>G
|
|
|
|
ENST00000686762.1:c.1355C>G
|
ENSP00000509767.1:p.Thr452Arg
|
|
|
ENST00000687257.1:n.1591C>G
|
|
|
|
ENST00000687326.1:c.*289C>G
|
ENSP00000509665.1:n.*289C>G
|
|
|
ENST00000687505.1:n.1473C>G
|
|
|
|
ENST00000687923.1:c.1244C>G
|
ENSP00000510255.1:p.Thr415Arg
|
|
|
ENST00000687940.1:n.1732C>G
|
|
|
|
ENST00000688269.1:n.1951C>G
|
|
|
|
ENST00000688326.1:c.788C>G
|
|
|
|
ENST00000688444.1:n.1681C>G
|
|
|
|
ENST00000688543.1:c.1256C>G
|
ENSP00000509612.1:p.Thr419Arg
|
|
|
ENST00000688625.1:c.*933C>G
|
ENSP00000509522.1:n.*933C>G
|
|
|
ENST00000688803.1:n.1586C>G
|
|
|
|
ENST00000688914.1:n.341C>G
|
|
|
|
ENST00000689097.1:c.*1032C>G
|
ENSP00000509756.1:n.*1032C>G
|
|
|
ENST00000689389.1:c.1193+895C>G
|
ENSP00000510213.1:n.1193+895C>G
|
|
|
ENST00000689418.1:c.*1032C>G
|
ENSP00000509467.1:n.*1032C>G
|
|
|
ENST00000689481.1:c.*1032C>G
|
ENSP00000510248.1:n.*1032C>G
|
|
|
ENST00000689540.1:n.1505C>G
|
|
|
|
ENST00000689876.1:c.1355C>G
|
ENSP00000508535.1:p.Thr452Arg
|
|
|
ENST00000689914.1:c.*289C>G
|
ENSP00000509847.1:n.*289C>G
|
|
|
ENST00000690397.1:c.1244C>G
|
ENSP00000508730.1:p.Thr415Arg
|
|
|
ENST00000690460.1:c.1343C>G
|
ENSP00000509106.1:p.Thr448Arg
|
|
|
ENST00000690585.1:c.247C>G
|
|
|
|
ENST00000690625.1:n.2391C>G
|
|
|
|
ENST00000691396.1:c.*1207C>G
|
ENSP00000510712.1:n.*1207C>G
|
|
|
ENST00000691724.1:c.*312C>G
|
ENSP00000509255.1:n.*312C>G
|
|
|
ENST00000691779.1:c.*933C>G
|
ENSP00000508592.1:n.*933C>G
|
|
|
ENST00000691888.1:c.247C>G
|
|
|
|
ENST00000691899.1:c.1355C>G
|
ENSP00000508763.1:p.Thr452Arg
|
|
|
ENST00000692069.1:n.1921C>G
|
|
|
|
ENST00000692093.1:c.1256C>G
|
ENSP00000509669.1:p.Thr419Arg
|
|
|
ENST00000692311.1:n.2179C>G
|
|
|
|
ENST00000692558.1:n.1720C>G
|
|
|
|
ENST00000692773.1:c.*1092C>G
|
ENSP00000509055.1:n.*1092C>G
|
|
|
ENST00000692830.1:c.*1100C>G
|
ENSP00000509461.1:n.*1100C>G
|
|
|
ENST00000693069.1:c.*289C>G
|
ENSP00000510072.1:n.*289C>G
|
|
|
ENST00000693312.1:c.1130C>G
|
ENSP00000508686.1:p.Thr377Arg
|
|
|
ENST00000693664.1:c.1355C>G
|
ENSP00000509614.1:p.Thr452Arg
|
|
|
ENST00000693705.1:c.*1032C>G
|
ENSP00000510697.1:n.*1032C>G
|
|
|
ENST00000251849.9:c.1355C>G
MANE Select
|
ENSP00000251849.4:p.Thr452Arg
|
|
|
ENST00000442415.7:c.1415C>G
|
ENSP00000401888.2:p.Thr472Arg
|
|
|
ENST00000251849.8:c.1355C>G
|
ENSP00000251849.4:p.Thr452Arg
|
|
|
ENST00000423275.5:c.*1032C>G
|
ENSP00000401088.1:n.*1032C>G
|
|
|
ENST00000432427.2:c.992C>G
|
ENSP00000398591.2:p.Thr331Arg
|
|
|
ENST00000442415.6:c.1415C>G
|
ENSP00000401888.2:p.Thr472Arg
|
|
|
ENST00000460610.1:n.312C>G
|
|
|
|
ENST00000465826.5:n.712C>G
|
|
|
|
ENST00000475353.1:n.523C>G
|
|
|
|
ENST00000494557.1:n.371C>G
|
|
|
|
NM_002880.3:c.1355C>G , LRG_413t1:c.1355C>G
|
NP_002871.1:p.Thr452Arg
|
|
|
XM_005265355.1:c.1355C>G
|
XP_005265412.1:p.Thr452Arg
|
|
|
XM_005265357.1:c.1256C>G
|
XP_005265414.1:p.Thr419Arg
|
|
|
XM_005265358.3:c.1112C>G
|
XP_005265415.1:p.Thr371Arg
|
|
|
XM_005265359.3:c.1013C>G
|
XP_005265416.1:p.Thr338Arg
|
|
|
XM_005265360.1:c.1355C>G
|
XP_005265417.1:p.Thr452Arg
|
|
|
XM_011533974.1:c.1355C>G
|
XP_011532276.1:p.Thr452Arg
|
|
|
XM_011533975.1:c.1112C>G
|
XP_011532277.1:p.Thr371Arg
|
|
|
NM_001354689.1:c.1415C>G
|
NP_001341618.1:p.Thr472Arg
|
|
|
NM_001354690.1:c.1355C>G
|
NP_001341619.1:p.Thr452Arg
|
|
|
NM_001354691.1:c.1112C>G
|
NP_001341620.1:p.Thr371Arg
|
|
|
NM_001354692.1:c.1112C>G
|
NP_001341621.1:p.Thr371Arg
|
|
|
NM_001354693.1:c.1256C>G
|
NP_001341622.1:p.Thr419Arg
|
|
|
NM_001354694.1:c.1172C>G
|
NP_001341623.1:p.Thr391Arg
|
|
|
NM_001354695.1:c.1013C>G
|
NP_001341624.1:p.Thr338Arg
|
|
|
NR_148940.1:n.1883C>G
|
|
|
|
NR_148941.1:n.1829C>G
|
|
|
|
NR_148942.1:n.1768C>G
|
|
|
|
XM_011533974.3:c.1355C>G
|
XP_011532276.1:p.Thr452Arg
|
|
|
XM_017006966.1:c.1256C>G
|
XP_016862455.1:p.Thr419Arg
|
|
|
NM_001354689.3:c.1415C>G
|
NP_001341618.1:p.Thr472Arg
|
|
|
NM_001354690.2:c.1355C>G
|
NP_001341619.1:p.Thr452Arg
|
|
|
NM_001354691.2:c.1112C>G
|
NP_001341620.1:p.Thr371Arg
|
|
|
NM_001354692.2:c.1112C>G
|
NP_001341621.1:p.Thr371Arg
|
|
|
NM_001354693.2:c.1256C>G
|
NP_001341622.1:p.Thr419Arg
|
|
|
NM_001354694.2:c.1172C>G
|
NP_001341623.1:p.Thr391Arg
|
|
|
NM_001354695.2:c.1013C>G
|
NP_001341624.1:p.Thr338Arg
|
|
|
NR_148940.2:n.1799C>G
|
|
|
|
NR_148941.2:n.1745C>G
|
|
|
|
NR_148942.2:n.1684C>G
|
|
|
|
NM_001354690.3:c.1355C>G
|
NP_001341619.1:p.Thr452Arg
|
|
|
NM_001354691.3:c.1112C>G
|
NP_001341620.1:p.Thr371Arg
|
|
|
NM_001354692.3:c.1112C>G
|
NP_001341621.1:p.Thr371Arg
|
|
|
NM_001354693.3:c.1256C>G
|
NP_001341622.1:p.Thr419Arg
|
|
|
NM_001354694.3:c.1172C>G
|
NP_001341623.1:p.Thr391Arg
|
|
|
NM_001354695.3:c.1013C>G
|
NP_001341624.1:p.Thr338Arg
|
|
|
NM_002880.4:c.1355C>G
MANE Select
|
NP_002871.1:p.Thr452Arg
|
|
|
NR_148940.3:n.1799C>G
|
|
|
|
NR_148941.3:n.1745C>G
|
|
|
|
NR_148942.3:n.1684C>G
|
|
|
