|
NM_000516.7:c.320T>G
MANE Select
|
NP_000507.1:p.Val107Gly
|
|
ENST00000371085.8:c.320T>G
MANE Select
|
ENSP00000360126.3:p.Val107Gly
|
|
NM_016592.5:c.*226T>G
MANE Plus Clinical
|
NP_057676.1:n.*226T>G
|
|
NM_080425.4:c.2249T>G
MANE Plus Clinical
|
NP_536350.2:p.Val750Gly
|
|
ENST00000371075.7:c.*226T>G
MANE Plus Clinical
|
ENSP00000360115.3:n.*226T>G
|
|
ENST00000371100.9:c.2249T>G
MANE Plus Clinical
|
ENSP00000360141.3:p.Val750Gly
|
|
NM_000516.4:c.320T>G
|
NP_000507.1:p.Val107Gly
|
|
NM_000516.5:c.320T>G
|
NP_000507.1:p.Val107Gly
|
|
NM_000516.6:c.320T>G
|
NP_000507.1:p.Val107Gly
|
|
NM_001077488.2:c.323T>G
|
NP_001070956.1:p.Val108Gly
|
|
NM_001077488.3:c.323T>G
|
NP_001070956.1:p.Val108Gly
|
|
NM_001077488.4:c.323T>G
|
NP_001070956.1:p.Val108Gly
|
|
NM_001077488.5:c.323T>G
|
NP_001070956.1:p.Val108Gly
|
|
NM_001077489.2:c.275T>G
|
NP_001070957.1:p.Val92Gly
|
|
NM_001077489.3:c.275T>G
|
NP_001070957.1:p.Val92Gly
|
|
NM_001077489.4:c.275T>G
|
NP_001070957.1:p.Val92Gly
|
|
NM_001077490.1:c.*181T>G
|
NP_001070958.1:n.*181T>G
|
|
NM_001077490.2:c.*181T>G
|
NP_001070958.1:n.*181T>G
|
|
NM_001077490.3:c.*181T>G
|
NP_001070958.1:n.*181T>G
|
|
NM_001309840.1:c.143T>G
|
NP_001296769.1:p.Val48Gly
|
|
NM_001309840.2:c.143T>G
|
NP_001296769.1:p.Val48Gly
|
|
NM_001309861.1:c.143T>G
|
NP_001296790.1:p.Val48Gly
|
|
NM_001309861.2:c.143T>G
|
NP_001296790.1:p.Val48Gly
|
|
NM_016592.2:c.*226T>G
|
NP_057676.1:n.*226T>G
|
|
NM_016592.3:c.*226T>G
|
NP_057676.1:n.*226T>G
|
|
NM_016592.4:c.*226T>G
|
NP_057676.1:n.*226T>G
|
|
NM_080425.2:c.2249T>G
|
NP_536350.2:p.Val750Gly
|
|
NM_080425.3:c.2249T>G
|
NP_536350.2:p.Val750Gly
|
|
NM_080426.2:c.278T>G
|
NP_536351.1:p.Val93Gly
|
|
NM_080426.3:c.278T>G
|
NP_536351.1:p.Val93Gly
|
|
NM_080426.4:c.278T>G
|
NP_536351.1:p.Val93Gly
|
|
NR_003259.1:c.-4294966886T>G
|
|
|
ENST00000265620.11:c.275T>G
|
ENSP00000265620.7:p.Val92Gly
|
|
ENST00000306090.11:c.94-6088T>G
|
ENSP00000304472.11:n.94-6088T>G
|
|
ENST00000306090.12:c.224T>G
|
ENSP00000304472.12:p.Val75Gly
|
|
ENST00000313949.11:c.*223T>G
|
ENSP00000323571.7:n.*223T>G
|
|
ENST00000349036.7:c.371T>G
|
ENSP00000265621.4:p.Val124Gly
|
|
ENST00000349036.8:c.2204T>G
|
ENSP00000265621.5:p.Val735Gly
|
|
ENST00000349036.9:c.2204T>G
|
ENSP00000265621.6:p.Val735Gly
|
|
ENST00000354359.11:c.323T>G
|
ENSP00000346328.7:p.Val108Gly
|
|
ENST00000354359.12:c.323T>G
|
ENSP00000346328.7:p.Val108Gly
|
|
ENST00000371085.7:c.320T>G
|
ENSP00000360126.3:p.Val107Gly
|
|
ENST00000371095.7:c.278T>G
|
ENSP00000360136.3:p.Val93Gly
|
|
ENST00000371100.8:c.2249T>G
|
ENSP00000360141.3:p.Val750Gly
|
|
ENST00000371102.8:c.2207T>G
|
ENSP00000360143.4:p.Val736Gly
|
|
ENST00000419558.5:c.519T>G
|
|
|
ENST00000419558.6:c.*178T>G
|
ENSP00000416234.2:n.*178T>G
|
|
ENST00000419558.7:c.*178T>G
|
ENSP00000416234.2:n.*178T>G
|
|
ENST00000450130.5:c.363T>G
|
|
|
ENST00000453292.7:c.919T>G
|
ENSP00000392000.2:n.919T>G
|
|
ENST00000462499.5:n.397T>G
|
|
|
ENST00000462499.6:c.101T>G
|
ENSP00000499758.2:p.Val34Gly
|
|
ENST00000464624.6:n.2536T>G
|
|
|
ENST00000464624.7:c.*162T>G
|
ENSP00000499607.2:n.*162T>G
|
|
ENST00000464788.5:n.248T>G
|
|
|
ENST00000464788.6:c.143T>G
|
ENSP00000499239.2:p.Val48Gly
|
|
ENST00000467227.5:n.261T>G
|
|
|
ENST00000467227.6:c.101T>G
|
ENSP00000499681.2:p.Val34Gly
|
|
ENST00000467321.5:n.335T>G
|
|
|
ENST00000467321.6:c.143T>G
|
ENSP00000499523.2:p.Val48Gly
|
|
ENST00000468895.5:n.189T>G
|
|
|
ENST00000468895.6:c.320T>G
|
ENSP00000499551.2:p.Val107Gly
|
|
ENST00000469431.5:n.437T>G
|
|
|
ENST00000469431.6:c.143T>G
|
ENSP00000499654.2:p.Val48Gly
|
|
ENST00000470512.5:n.394T>G
|
|
|
ENST00000470512.6:c.146T>G
|
ENSP00000499552.2:p.Val49Gly
|
|
ENST00000472183.5:n.572T>G
|
|
|
ENST00000472183.6:c.143T>G
|
ENSP00000499673.2:p.Val48Gly
|
|
ENST00000475610.2:n.826T>G
|
|
|
ENST00000476196.5:n.613T>G
|
|
|
ENST00000476935.5:n.309T>G
|
|
|
ENST00000476935.6:c.98T>G
|
ENSP00000499409.2:p.Val33Gly
|
|
ENST00000477931.5:n.435T>G
|
|
|
ENST00000478585.5:n.333T>G
|
|
|
ENST00000478585.6:c.101T>G
|
ENSP00000499762.2:p.Val34Gly
|
|
ENST00000480232.5:n.339T>G
|
|
|
ENST00000480232.6:c.146T>G
|
ENSP00000499545.2:p.Val49Gly
|
|
ENST00000480975.5:n.319T>G
|
|
|
ENST00000481039.5:n.237T>G
|
|
|
ENST00000481039.6:c.101T>G
|
ENSP00000499767.2:p.Val34Gly
|
|
ENST00000482112.5:n.394T>G
|
|
|
ENST00000482112.6:c.98T>G
|
ENSP00000499794.2:p.Val33Gly
|
|
ENST00000485673.5:n.565T>G
|
|
|
ENST00000485673.6:c.101T>G
|
ENSP00000499334.2:p.Val34Gly
|
|
ENST00000487862.5:n.554T>G
|
|
|
ENST00000487981.5:n.57T>G
|
|
|
ENST00000488546.5:n.179T>G
|
|
|
ENST00000488546.6:c.101T>G
|
ENSP00000499332.2:p.Val34Gly
|
|
ENST00000488652.5:n.410T>G
|
|
|
ENST00000488652.6:c.143T>G
|
ENSP00000499435.2:p.Val48Gly
|
|
ENST00000490374.5:n.438T>G
|
|
|
ENST00000490374.6:n.485T>G
|
|
|
ENST00000492907.5:n.271T>G
|
|
|
ENST00000492907.6:c.101T>G
|
ENSP00000499443.2:p.Val34Gly
|
|
ENST00000494081.5:n.63T>G
|
|
|
ENST00000496934.5:n.1609T>G
|
|
|
ENST00000603546.1:c.143T>G
|
ENSP00000474802.1:p.Val48Gly
|
|
ENST00000603546.2:c.143T>G
|
ENSP00000474802.2:p.Val48Gly
|
|
ENST00000604005.5:c.143T>G
|
ENSP00000474219.1:p.Val48Gly
|
|
ENST00000604005.6:c.143T>G
|
ENSP00000474219.2:p.Val48Gly
|
|
ENST00000657090.1:c.143T>G
|
ENSP00000499380.1:p.Val48Gly
|
|
ENST00000663479.1:c.146T>G
|
ENSP00000499353.1:p.Val49Gly
|
|
ENST00000663479.2:c.146T>G
|
ENSP00000499353.2:p.Val49Gly
|
|
ENST00000667293.1:c.191T>G
|
ENSP00000499293.1:p.Val64Gly
|
|
ENST00000667293.2:c.143T>G
|
ENSP00000499293.2:p.Val48Gly
|
|
ENST00000676826.1:c.2252T>G
|
ENSP00000504675.1:p.Val751Gly
|
|
ENST00000676826.2:c.2252T>G
|
ENSP00000504675.2:p.Val751Gly
|
|
ENST00000682092.1:n.826T>G
|
|
|
ENST00000682134.1:n.2246T>G
|
|
|
ENST00000682411.1:n.824T>G
|
|
|
ENST00000682590.1:n.826T>G
|
|
|
ENST00000682680.1:n.840T>G
|
|
|
ENST00000682803.1:c.-8T>G
|
ENSP00000507069.1:n.-8T>G
|
|
ENST00000682829.1:n.2648T>G
|
|
|
ENST00000682917.1:n.848T>G
|
|
|
ENST00000682986.1:n.826T>G
|
|
|
ENST00000683015.1:c.1090T>G
|
ENSP00000506815.1:n.1090T>G
|
|
ENST00000683632.1:n.835T>G
|
|
|
ENST00000683932.1:n.824T>G
|
|
|
ENST00000684284.1:n.2698T>G
|
|
|
ENST00000684466.1:n.826T>G
|
|
|
ENST00000684644.1:n.826T>G
|
|
|
ENST00000684761.1:n.826T>G
|
|
|
XM_017027812.2:c.2252T>G
|
XP_016883301.1:p.Val751Gly
|
|
XM_017027813.2:c.2207T>G
|
XP_016883302.1:p.Val736Gly
|
|
XM_017027814.2:c.2204T>G
|
XP_016883303.1:p.Val735Gly
|
|
XM_017027815.1:c.179T>G
|
XP_016883304.1:p.Val60Gly
|
|
XM_017027816.1:c.98T>G
|
XP_016883305.1:p.Val33Gly
|
|
XM_017027817.1:c.98T>G
|
XP_016883306.1:p.Val33Gly
|
|
XM_017027818.2:c.98T>G
|
XP_016883307.1:p.Val33Gly
|
|
XM_017027819.1:c.98T>G
|
XP_016883308.1:p.Val33Gly
|
|
XM_017027820.1:c.98T>G
|
XP_016883309.1:p.Val33Gly
|
|
XM_017027821.1:c.*223T>G
|
XP_016883310.1:n.*223T>G
|
|
XM_017027822.1:c.*178T>G
|
XP_016883311.1:n.*178T>G
|
|
XM_024451872.1:c.224T>G
|
XP_024307640.1:p.Val75Gly
|
|
XM_024451873.1:c.143T>G
|
XP_024307641.1:p.Val48Gly
|
|
XM_024451874.1:c.143T>G
|
XP_024307642.1:p.Val48Gly
|
|
XM_024451875.1:c.143T>G
|
XP_024307643.1:p.Val48Gly
|
|
XR_002958471.1:n.1027T>G
|
|
