ENST00000423275.6:c.*1026A>T
|
ENSP00000401088.1:n.*1026A>T
|
|
ENST00000432427.3:c.678A>T
|
|
|
ENST00000460610.2:n.155A>T
|
|
|
ENST00000465826.6:n.952A>T
|
|
|
ENST00000475353.2:n.1283A>T
|
|
|
ENST00000494557.2:n.1172A>T
|
|
|
ENST00000684903.1:c.*1038A>T
|
ENSP00000508612.1:n.*1038A>T
|
|
ENST00000685348.1:c.*1038A>T
|
ENSP00000510285.1:n.*1038A>T
|
|
ENST00000685437.1:c.1262A>T
|
ENSP00000508794.1:p.Gln421Leu
|
|
ENST00000685653.1:c.1361A>T
|
ENSP00000509968.1:p.Gln454Leu
|
|
ENST00000685738.1:c.*325A>T
|
ENSP00000510156.1:n.*325A>T
|
|
ENST00000686409.1:n.2412A>T
|
|
|
ENST00000686455.1:n.1724A>T
|
|
|
ENST00000686762.1:c.1361A>T
|
ENSP00000509767.1:p.Gln454Leu
|
|
ENST00000687257.1:n.1597A>T
|
|
|
ENST00000687326.1:c.*295A>T
|
ENSP00000509665.1:n.*295A>T
|
|
ENST00000687505.1:n.1479A>T
|
|
|
ENST00000687923.1:c.1250A>T
|
ENSP00000510255.1:p.Gln417Leu
|
|
ENST00000687940.1:n.1738A>T
|
|
|
ENST00000688269.1:n.1957A>T
|
|
|
ENST00000688326.1:c.794A>T
|
|
|
ENST00000688444.1:n.1687A>T
|
|
|
ENST00000688543.1:c.1262A>T
|
ENSP00000509612.1:p.Gln421Leu
|
|
ENST00000688625.1:c.*939A>T
|
ENSP00000509522.1:n.*939A>T
|
|
ENST00000688803.1:n.1592A>T
|
|
|
ENST00000688914.1:n.347A>T
|
|
|
ENST00000689097.1:c.*1038A>T
|
ENSP00000509756.1:n.*1038A>T
|
|
ENST00000689389.1:c.1193+901A>T
|
ENSP00000510213.1:n.1193+901A>T
|
|
ENST00000689418.1:c.*1038A>T
|
ENSP00000509467.1:n.*1038A>T
|
|
ENST00000689481.1:c.*1038A>T
|
ENSP00000510248.1:n.*1038A>T
|
|
ENST00000689540.1:n.1511A>T
|
|
|
ENST00000689876.1:c.1361A>T
|
ENSP00000508535.1:p.Gln454Leu
|
|
ENST00000689914.1:c.*295A>T
|
ENSP00000509847.1:n.*295A>T
|
|
ENST00000690397.1:c.1250A>T
|
ENSP00000508730.1:p.Gln417Leu
|
|
ENST00000690460.1:c.1349A>T
|
ENSP00000509106.1:p.Gln450Leu
|
|
ENST00000690585.1:c.253A>T
|
|
|
ENST00000690625.1:n.2397A>T
|
|
|
ENST00000691396.1:c.*1213A>T
|
ENSP00000510712.1:n.*1213A>T
|
|
ENST00000691724.1:c.*318A>T
|
ENSP00000509255.1:n.*318A>T
|
|
ENST00000691779.1:c.*939A>T
|
ENSP00000508592.1:n.*939A>T
|
|
ENST00000691888.1:c.253A>T
|
|
|
ENST00000691899.1:c.1361A>T
|
ENSP00000508763.1:p.Gln454Leu
|
|
ENST00000692069.1:n.1927A>T
|
|
|
ENST00000692093.1:c.1262A>T
|
ENSP00000509669.1:p.Gln421Leu
|
|
ENST00000692311.1:n.2185A>T
|
|
|
ENST00000692558.1:n.1726A>T
|
|
|
ENST00000692773.1:c.*1098A>T
|
ENSP00000509055.1:n.*1098A>T
|
|
ENST00000692830.1:c.*1106A>T
|
ENSP00000509461.1:n.*1106A>T
|
|
ENST00000693069.1:c.*295A>T
|
ENSP00000510072.1:n.*295A>T
|
|
ENST00000693312.1:c.1136A>T
|
ENSP00000508686.1:p.Gln379Leu
|
|
ENST00000693664.1:c.1361A>T
|
ENSP00000509614.1:p.Gln454Leu
|
|
ENST00000693705.1:c.*1038A>T
|
ENSP00000510697.1:n.*1038A>T
|
|
ENST00000251849.9:c.1361A>T
MANE Select
|
ENSP00000251849.4:p.Gln454Leu
|
|
ENST00000442415.7:c.1421A>T
|
ENSP00000401888.2:p.Gln474Leu
|
|
ENST00000251849.8:c.1361A>T
|
ENSP00000251849.4:p.Gln454Leu
|
|
ENST00000423275.5:c.*1038A>T
|
ENSP00000401088.1:n.*1038A>T
|
|
ENST00000432427.2:c.998A>T
|
ENSP00000398591.2:p.Gln333Leu
|
|
ENST00000442415.6:c.1421A>T
|
ENSP00000401888.2:p.Gln474Leu
|
|
ENST00000460610.1:n.318A>T
|
|
|
ENST00000465826.5:n.718A>T
|
|
|
ENST00000475353.1:n.529A>T
|
|
|
ENST00000494557.1:n.377A>T
|
|
|
NM_002880.3:c.1361A>T , LRG_413t1:c.1361A>T
|
NP_002871.1:p.Gln454Leu
|
|
XM_005265355.1:c.1361A>T
|
XP_005265412.1:p.Gln454Leu
|
|
XM_005265357.1:c.1262A>T
|
XP_005265414.1:p.Gln421Leu
|
|
XM_005265358.3:c.1118A>T
|
XP_005265415.1:p.Gln373Leu
|
|
XM_005265359.3:c.1019A>T
|
XP_005265416.1:p.Gln340Leu
|
|
XM_005265360.1:c.1361A>T
|
XP_005265417.1:p.Gln454Leu
|
|
XM_011533974.1:c.1361A>T
|
XP_011532276.1:p.Gln454Leu
|
|
XM_011533975.1:c.1118A>T
|
XP_011532277.1:p.Gln373Leu
|
|
NM_001354689.1:c.1421A>T
|
NP_001341618.1:p.Gln474Leu
|
|
NM_001354690.1:c.1361A>T
|
NP_001341619.1:p.Gln454Leu
|
|
NM_001354691.1:c.1118A>T
|
NP_001341620.1:p.Gln373Leu
|
|
NM_001354692.1:c.1118A>T
|
NP_001341621.1:p.Gln373Leu
|
|
NM_001354693.1:c.1262A>T
|
NP_001341622.1:p.Gln421Leu
|
|
NM_001354694.1:c.1178A>T
|
NP_001341623.1:p.Gln393Leu
|
|
NM_001354695.1:c.1019A>T
|
NP_001341624.1:p.Gln340Leu
|
|
NR_148940.1:n.1889A>T
|
|
|
NR_148941.1:n.1835A>T
|
|
|
NR_148942.1:n.1774A>T
|
|
|
XM_011533974.3:c.1361A>T
|
XP_011532276.1:p.Gln454Leu
|
|
XM_017006966.1:c.1262A>T
|
XP_016862455.1:p.Gln421Leu
|
|
NM_001354689.3:c.1421A>T
|
NP_001341618.1:p.Gln474Leu
|
|
NM_001354690.2:c.1361A>T
|
NP_001341619.1:p.Gln454Leu
|
|
NM_001354691.2:c.1118A>T
|
NP_001341620.1:p.Gln373Leu
|
|
NM_001354692.2:c.1118A>T
|
NP_001341621.1:p.Gln373Leu
|
|
NM_001354693.2:c.1262A>T
|
NP_001341622.1:p.Gln421Leu
|
|
NM_001354694.2:c.1178A>T
|
NP_001341623.1:p.Gln393Leu
|
|
NM_001354695.2:c.1019A>T
|
NP_001341624.1:p.Gln340Leu
|
|
NR_148940.2:n.1805A>T
|
|
|
NR_148941.2:n.1751A>T
|
|
|
NR_148942.2:n.1690A>T
|
|
|
NM_001354690.3:c.1361A>T
|
NP_001341619.1:p.Gln454Leu
|
|
NM_001354691.3:c.1118A>T
|
NP_001341620.1:p.Gln373Leu
|
|
NM_001354692.3:c.1118A>T
|
NP_001341621.1:p.Gln373Leu
|
|
NM_001354693.3:c.1262A>T
|
NP_001341622.1:p.Gln421Leu
|
|
NM_001354694.3:c.1178A>T
|
NP_001341623.1:p.Gln393Leu
|
|
NM_001354695.3:c.1019A>T
|
NP_001341624.1:p.Gln340Leu
|
|
NM_002880.4:c.1361A>T
MANE Select
|
NP_002871.1:p.Gln454Leu
|
|
NR_148940.3:n.1805A>T
|
|
|
NR_148941.3:n.1751A>T
|
|
|
NR_148942.3:n.1690A>T
|
|
|