|
ENST00000423275.6:c.*615A>C
|
ENSP00000401088.1:n.*615A>C
|
|
|
ENST00000432427.3:c.270A>C
|
|
|
|
ENST00000465826.6:n.541A>C
|
|
|
|
ENST00000491290.2:n.1327A>C
|
|
|
|
ENST00000684903.1:c.*627A>C
|
ENSP00000508612.1:n.*627A>C
|
|
|
ENST00000685348.1:c.*627A>C
|
ENSP00000510285.1:n.*627A>C
|
|
|
ENST00000685437.1:c.851A>C
|
ENSP00000508794.1:p.Glu284Ala
|
|
|
ENST00000685653.1:c.950A>C
|
ENSP00000509968.1:p.Glu317Ala
|
|
|
ENST00000685738.1:c.950A>C
|
ENSP00000510156.1:p.Glu317Ala
|
|
|
ENST00000686409.1:n.1658A>C
|
|
|
|
ENST00000686455.1:n.1313A>C
|
|
|
|
ENST00000686479.1:n.1321A>C
|
|
|
|
ENST00000686762.1:c.950A>C
|
ENSP00000509767.1:p.Glu317Ala
|
|
|
ENST00000687257.1:n.1186A>C
|
|
|
|
ENST00000687326.1:c.950A>C
|
ENSP00000509665.1:p.Glu317Ala
|
|
|
ENST00000687486.1:c.182+196A>C
|
|
|
|
ENST00000687505.1:n.1068A>C
|
|
|
|
ENST00000687923.1:c.851A>C
|
ENSP00000510255.1:p.Glu284Ala
|
|
|
ENST00000687940.1:n.1327A>C
|
|
|
|
ENST00000688269.1:n.1546A>C
|
|
|
|
ENST00000688326.1:c.270A>C
|
|
|
|
ENST00000688444.1:n.1276A>C
|
|
|
|
ENST00000688543.1:c.851A>C
|
ENSP00000509612.1:p.Glu284Ala
|
|
|
ENST00000688625.1:c.*528A>C
|
ENSP00000509522.1:n.*528A>C
|
|
|
ENST00000688803.1:n.1181A>C
|
|
|
|
ENST00000689097.1:c.*627A>C
|
ENSP00000509756.1:n.*627A>C
|
|
|
ENST00000689389.1:c.950A>C
|
ENSP00000510213.1:p.Glu317Ala
|
|
|
ENST00000689418.1:c.*627A>C
|
ENSP00000509467.1:n.*627A>C
|
|
|
ENST00000689481.1:c.*627A>C
|
ENSP00000510248.1:n.*627A>C
|
|
|
ENST00000689540.1:n.1100A>C
|
|
|
|
ENST00000689876.1:c.950A>C
|
ENSP00000508535.1:p.Glu317Ala
|
|
|
ENST00000689914.1:c.950A>C
|
ENSP00000509847.1:p.Glu317Ala
|
|
|
ENST00000690397.1:c.839A>C
|
ENSP00000508730.1:p.Glu280Ala
|
|
|
ENST00000690460.1:c.938A>C
|
ENSP00000509106.1:p.Glu313Ala
|
|
|
ENST00000690625.1:n.1253A>C
|
|
|
|
ENST00000691268.1:c.377A>C
|
|
|
|
ENST00000691396.1:c.*743A>C
|
ENSP00000510712.1:n.*743A>C
|
|
|
ENST00000691724.1:c.950A>C
|
ENSP00000509255.1:p.Glu317Ala
|
|
|
ENST00000691779.1:c.*528A>C
|
ENSP00000508592.1:n.*528A>C
|
|
|
ENST00000691899.1:c.950A>C
|
ENSP00000508763.1:p.Glu317Ala
|
|
|
ENST00000692069.1:n.1173A>C
|
|
|
|
ENST00000692093.1:c.851A>C
|
ENSP00000509669.1:p.Glu284Ala
|
|
|
ENST00000692311.1:n.1431A>C
|
|
|
|
ENST00000692558.1:n.1315A>C
|
|
|
|
ENST00000692773.1:c.*687A>C
|
ENSP00000509055.1:n.*687A>C
|
|
|
ENST00000692830.1:c.*695A>C
|
ENSP00000509461.1:n.*695A>C
|
|
|
ENST00000693069.1:c.851A>C
|
ENSP00000510072.1:p.Glu284Ala
|
|
|
ENST00000693312.1:c.725A>C
|
ENSP00000508686.1:p.Glu242Ala
|
|
|
ENST00000693664.1:c.950A>C
|
ENSP00000509614.1:p.Glu317Ala
|
|
|
ENST00000693705.1:c.*627A>C
|
ENSP00000510697.1:n.*627A>C
|
|
|
ENST00000251849.9:c.950A>C
MANE Select
|
ENSP00000251849.4:p.Glu317Ala
|
|
|
ENST00000442415.7:c.1010A>C
|
ENSP00000401888.2:p.Glu337Ala
|
|
|
ENST00000251849.8:c.950A>C
|
ENSP00000251849.4:p.Glu317Ala
|
|
|
ENST00000423275.5:c.*627A>C
|
ENSP00000401088.1:n.*627A>C
|
|
|
ENST00000432427.2:c.587A>C
|
ENSP00000398591.2:p.Glu196Ala
|
|
|
ENST00000442415.6:c.1010A>C
|
ENSP00000401888.2:p.Glu337Ala
|
|
|
ENST00000465826.5:n.194A>C
|
|
|
|
NM_002880.3:c.950A>C , LRG_413t1:c.950A>C
|
NP_002871.1:p.Glu317Ala
|
|
|
XM_005265355.1:c.950A>C
|
XP_005265412.1:p.Glu317Ala
|
|
|
XM_005265357.1:c.851A>C
|
XP_005265414.1:p.Glu284Ala
|
|
|
XM_005265358.3:c.707A>C
|
XP_005265415.1:p.Glu236Ala
|
|
|
XM_005265359.3:c.608A>C
|
XP_005265416.1:p.Glu203Ala
|
|
|
XM_005265360.1:c.950A>C
|
XP_005265417.1:p.Glu317Ala
|
|
|
XM_011533974.1:c.950A>C
|
XP_011532276.1:p.Glu317Ala
|
|
|
XM_011533975.1:c.707A>C
|
XP_011532277.1:p.Glu236Ala
|
|
|
NM_001354689.1:c.1010A>C
|
NP_001341618.1:p.Glu337Ala
|
|
|
NM_001354690.1:c.950A>C
|
NP_001341619.1:p.Glu317Ala
|
|
|
NM_001354691.1:c.707A>C
|
NP_001341620.1:p.Glu236Ala
|
|
|
NM_001354692.1:c.707A>C
|
NP_001341621.1:p.Glu236Ala
|
|
|
NM_001354693.1:c.851A>C
|
NP_001341622.1:p.Glu284Ala
|
|
|
NM_001354694.1:c.767A>C
|
NP_001341623.1:p.Glu256Ala
|
|
|
NM_001354695.1:c.608A>C
|
NP_001341624.1:p.Glu203Ala
|
|
|
NR_148940.1:n.1365A>C
|
|
|
|
NR_148941.1:n.1365A>C
|
|
|
|
NR_148942.1:n.1365A>C
|
|
|
|
XM_011533974.3:c.950A>C
|
XP_011532276.1:p.Glu317Ala
|
|
|
XM_017006966.1:c.851A>C
|
XP_016862455.1:p.Glu284Ala
|
|
|
XR_001740227.1:n.1182A>C
|
|
|
|
NM_001354689.3:c.1010A>C
|
NP_001341618.1:p.Glu337Ala
|
|
|
NM_001354690.2:c.950A>C
|
NP_001341619.1:p.Glu317Ala
|
|
|
NM_001354691.2:c.707A>C
|
NP_001341620.1:p.Glu236Ala
|
|
|
NM_001354692.2:c.707A>C
|
NP_001341621.1:p.Glu236Ala
|
|
|
NM_001354693.2:c.851A>C
|
NP_001341622.1:p.Glu284Ala
|
|
|
NM_001354694.2:c.767A>C
|
NP_001341623.1:p.Glu256Ala
|
|
|
NM_001354695.2:c.608A>C
|
NP_001341624.1:p.Glu203Ala
|
|
|
NR_148940.2:n.1281A>C
|
|
|
|
NR_148941.2:n.1281A>C
|
|
|
|
NR_148942.2:n.1281A>C
|
|
|
|
NM_001354690.3:c.950A>C
|
NP_001341619.1:p.Glu317Ala
|
|
|
NM_001354691.3:c.707A>C
|
NP_001341620.1:p.Glu236Ala
|
|
|
NM_001354692.3:c.707A>C
|
NP_001341621.1:p.Glu236Ala
|
|
|
NM_001354693.3:c.851A>C
|
NP_001341622.1:p.Glu284Ala
|
|
|
NM_001354694.3:c.767A>C
|
NP_001341623.1:p.Glu256Ala
|
|
|
NM_001354695.3:c.608A>C
|
NP_001341624.1:p.Glu203Ala
|
|
|
NM_002880.4:c.950A>C
MANE Select
|
NP_002871.1:p.Glu317Ala
|
|
|
NR_148940.3:n.1281A>C
|
|
|
|
NR_148941.3:n.1281A>C
|
|
|
|
NR_148942.3:n.1281A>C
|
|
|
