ENST00000423275.6:c.*975A>C
|
ENSP00000401088.1:n.*975A>C
|
|
ENST00000432427.3:c.627A>C
|
|
|
ENST00000460610.2:n.104A>C
|
|
|
ENST00000465826.6:n.901A>C
|
|
|
ENST00000475353.2:n.1232A>C
|
|
|
ENST00000494557.2:n.1121A>C
|
|
|
ENST00000684903.1:c.*987A>C
|
ENSP00000508612.1:n.*987A>C
|
|
ENST00000685348.1:c.*987A>C
|
ENSP00000510285.1:n.*987A>C
|
|
ENST00000685437.1:c.1211A>C
|
ENSP00000508794.1:p.Glu404Ala
|
|
ENST00000685653.1:c.1310A>C
|
ENSP00000509968.1:p.Glu437Ala
|
|
ENST00000685738.1:c.*274A>C
|
ENSP00000510156.1:n.*274A>C
|
|
ENST00000686409.1:n.2361A>C
|
|
|
ENST00000686455.1:n.1673A>C
|
|
|
ENST00000686762.1:c.1310A>C
|
ENSP00000509767.1:p.Glu437Ala
|
|
ENST00000687257.1:n.1546A>C
|
|
|
ENST00000687326.1:c.*244A>C
|
ENSP00000509665.1:n.*244A>C
|
|
ENST00000687505.1:n.1428A>C
|
|
|
ENST00000687923.1:c.1199A>C
|
ENSP00000510255.1:p.Glu400Ala
|
|
ENST00000687940.1:n.1687A>C
|
|
|
ENST00000688269.1:n.1906A>C
|
|
|
ENST00000688326.1:c.743A>C
|
|
|
ENST00000688444.1:n.1636A>C
|
|
|
ENST00000688543.1:c.1211A>C
|
ENSP00000509612.1:p.Glu404Ala
|
|
ENST00000688625.1:c.*888A>C
|
ENSP00000509522.1:n.*888A>C
|
|
ENST00000688803.1:n.1541A>C
|
|
|
ENST00000688914.1:n.296A>C
|
|
|
ENST00000689097.1:c.*987A>C
|
ENSP00000509756.1:n.*987A>C
|
|
ENST00000689389.1:c.1193+850A>C
|
ENSP00000510213.1:n.1193+850A>C
|
|
ENST00000689418.1:c.*987A>C
|
ENSP00000509467.1:n.*987A>C
|
|
ENST00000689481.1:c.*987A>C
|
ENSP00000510248.1:n.*987A>C
|
|
ENST00000689540.1:n.1460A>C
|
|
|
ENST00000689876.1:c.1310A>C
|
ENSP00000508535.1:p.Glu437Ala
|
|
ENST00000689914.1:c.*244A>C
|
ENSP00000509847.1:n.*244A>C
|
|
ENST00000690397.1:c.1199A>C
|
ENSP00000508730.1:p.Glu400Ala
|
|
ENST00000690460.1:c.1298A>C
|
ENSP00000509106.1:p.Glu433Ala
|
|
ENST00000690585.1:c.202A>C
|
|
|
ENST00000690625.1:n.2346A>C
|
|
|
ENST00000691396.1:c.*1162A>C
|
ENSP00000510712.1:n.*1162A>C
|
|
ENST00000691724.1:c.*267A>C
|
ENSP00000509255.1:n.*267A>C
|
|
ENST00000691779.1:c.*888A>C
|
ENSP00000508592.1:n.*888A>C
|
|
ENST00000691888.1:c.202A>C
|
|
|
ENST00000691899.1:c.1310A>C
|
ENSP00000508763.1:p.Glu437Ala
|
|
ENST00000692069.1:n.1876A>C
|
|
|
ENST00000692093.1:c.1211A>C
|
ENSP00000509669.1:p.Glu404Ala
|
|
ENST00000692311.1:n.2134A>C
|
|
|
ENST00000692558.1:n.1675A>C
|
|
|
ENST00000692773.1:c.*1047A>C
|
ENSP00000509055.1:n.*1047A>C
|
|
ENST00000692830.1:c.*1055A>C
|
ENSP00000509461.1:n.*1055A>C
|
|
ENST00000693069.1:c.*244A>C
|
ENSP00000510072.1:n.*244A>C
|
|
ENST00000693312.1:c.1085A>C
|
ENSP00000508686.1:p.Glu362Ala
|
|
ENST00000693664.1:c.1310A>C
|
ENSP00000509614.1:p.Glu437Ala
|
|
ENST00000693705.1:c.*987A>C
|
ENSP00000510697.1:n.*987A>C
|
|
ENST00000251849.9:c.1310A>C
MANE Select
|
ENSP00000251849.4:p.Glu437Ala
|
|
ENST00000442415.7:c.1370A>C
|
ENSP00000401888.2:p.Glu457Ala
|
|
ENST00000251849.8:c.1310A>C
|
ENSP00000251849.4:p.Glu437Ala
|
|
ENST00000423275.5:c.*987A>C
|
ENSP00000401088.1:n.*987A>C
|
|
ENST00000432427.2:c.947A>C
|
ENSP00000398591.2:p.Glu316Ala
|
|
ENST00000442415.6:c.1370A>C
|
ENSP00000401888.2:p.Glu457Ala
|
|
ENST00000460610.1:n.267A>C
|
|
|
ENST00000465826.5:n.667A>C
|
|
|
ENST00000475353.1:n.478A>C
|
|
|
ENST00000494557.1:n.326A>C
|
|
|
NM_002880.3:c.1310A>C , LRG_413t1:c.1310A>C
|
NP_002871.1:p.Glu437Ala
|
|
XM_005265355.1:c.1310A>C
|
XP_005265412.1:p.Glu437Ala
|
|
XM_005265357.1:c.1211A>C
|
XP_005265414.1:p.Glu404Ala
|
|
XM_005265358.3:c.1067A>C
|
XP_005265415.1:p.Glu356Ala
|
|
XM_005265359.3:c.968A>C
|
XP_005265416.1:p.Glu323Ala
|
|
XM_005265360.1:c.1310A>C
|
XP_005265417.1:p.Glu437Ala
|
|
XM_011533974.1:c.1310A>C
|
XP_011532276.1:p.Glu437Ala
|
|
XM_011533975.1:c.1067A>C
|
XP_011532277.1:p.Glu356Ala
|
|
NM_001354689.1:c.1370A>C
|
NP_001341618.1:p.Glu457Ala
|
|
NM_001354690.1:c.1310A>C
|
NP_001341619.1:p.Glu437Ala
|
|
NM_001354691.1:c.1067A>C
|
NP_001341620.1:p.Glu356Ala
|
|
NM_001354692.1:c.1067A>C
|
NP_001341621.1:p.Glu356Ala
|
|
NM_001354693.1:c.1211A>C
|
NP_001341622.1:p.Glu404Ala
|
|
NM_001354694.1:c.1127A>C
|
NP_001341623.1:p.Glu376Ala
|
|
NM_001354695.1:c.968A>C
|
NP_001341624.1:p.Glu323Ala
|
|
NR_148940.1:n.1838A>C
|
|
|
NR_148941.1:n.1784A>C
|
|
|
NR_148942.1:n.1723A>C
|
|
|
XM_011533974.3:c.1310A>C
|
XP_011532276.1:p.Glu437Ala
|
|
XM_017006966.1:c.1211A>C
|
XP_016862455.1:p.Glu404Ala
|
|
NM_001354689.3:c.1370A>C
|
NP_001341618.1:p.Glu457Ala
|
|
NM_001354690.2:c.1310A>C
|
NP_001341619.1:p.Glu437Ala
|
|
NM_001354691.2:c.1067A>C
|
NP_001341620.1:p.Glu356Ala
|
|
NM_001354692.2:c.1067A>C
|
NP_001341621.1:p.Glu356Ala
|
|
NM_001354693.2:c.1211A>C
|
NP_001341622.1:p.Glu404Ala
|
|
NM_001354694.2:c.1127A>C
|
NP_001341623.1:p.Glu376Ala
|
|
NM_001354695.2:c.968A>C
|
NP_001341624.1:p.Glu323Ala
|
|
NR_148940.2:n.1754A>C
|
|
|
NR_148941.2:n.1700A>C
|
|
|
NR_148942.2:n.1639A>C
|
|
|
NM_001354690.3:c.1310A>C
|
NP_001341619.1:p.Glu437Ala
|
|
NM_001354691.3:c.1067A>C
|
NP_001341620.1:p.Glu356Ala
|
|
NM_001354692.3:c.1067A>C
|
NP_001341621.1:p.Glu356Ala
|
|
NM_001354693.3:c.1211A>C
|
NP_001341622.1:p.Glu404Ala
|
|
NM_001354694.3:c.1127A>C
|
NP_001341623.1:p.Glu376Ala
|
|
NM_001354695.3:c.968A>C
|
NP_001341624.1:p.Glu323Ala
|
|
NM_002880.4:c.1310A>C
MANE Select
|
NP_002871.1:p.Glu437Ala
|
|
NR_148940.3:n.1754A>C
|
|
|
NR_148941.3:n.1700A>C
|
|
|
NR_148942.3:n.1639A>C
|
|
|