|
ENST00000341012.13:c.1850T>G
|
ENSP00000343034.7:p.Leu617Arg
|
|
|
ENST00000404875.7:n.2552T>G
|
|
|
|
ENST00000423007.6:c.2069T>G
|
ENSP00000404119.2:p.Leu690Arg
|
|
|
ENST00000677295.2:c.*2356T>G
|
ENSP00000504346.2:n.*2356T>G
|
|
|
ENST00000678264.2:c.*2195T>G
|
ENSP00000503157.2:n.*2195T>G
|
|
|
ENST00000682070.1:n.2322T>G
|
|
|
|
ENST00000682639.1:c.9T>G
|
|
|
|
ENST00000682813.1:n.2409T>G
|
|
|
|
ENST00000683231.1:c.9T>G
|
|
|
|
ENST00000683392.1:n.4604T>G
|
|
|
|
ENST00000683712.1:n.2417T>G
|
|
|
|
ENST00000683900.1:n.3912T>G
|
|
|
|
ENST00000684062.1:n.2678T>G
|
|
|
|
ENST00000684399.1:c.9T>G
|
|
|
|
ENST00000684579.1:n.3858T>G
|
|
|
|
ENST00000341012.12:c.1850T>G
|
ENSP00000343034.7:p.Leu617Arg
|
|
|
ENST00000372220.5:c.881T>G
|
ENSP00000361294.5:p.Leu294Arg
|
|
|
ENST00000372228.9:c.2078T>G
|
ENSP00000361302.3:p.Leu693Arg
|
|
|
ENST00000402686.8:c.2012T>G
MANE Select
|
ENSP00000385797.4:p.Leu671Arg
|
|
|
ENST00000676640.1:c.2012T>G
|
ENSP00000503281.1:p.Leu671Arg
|
|
|
ENST00000676803.1:c.1073T>G
|
ENSP00000503093.1:p.Leu358Arg
|
|
|
ENST00000676835.1:c.*1227T>G
|
ENSP00000502911.1:n.*1227T>G
|
|
|
ENST00000677029.1:c.1556T>G
|
ENSP00000502936.1:p.Leu519Arg
|
|
|
ENST00000677099.1:c.*1722T>G
|
ENSP00000504553.1:n.*1722T>G
|
|
|
ENST00000677216.1:c.1661T>G
|
ENSP00000503772.1:p.Leu554Arg
|
|
|
ENST00000677221.1:n.1037T>G
|
|
|
|
ENST00000677295.1:c.*1234T>G
|
ENSP00000504346.1:n.*1234T>G
|
|
|
ENST00000677444.1:c.1957T>G
|
|
|
|
ENST00000677586.1:n.1379T>G
|
|
|
|
ENST00000677626.1:c.1661T>G
|
ENSP00000503552.1:p.Leu554Arg
|
|
|
ENST00000677853.1:c.*1020T>G
|
ENSP00000503488.1:n.*1020T>G
|
|
|
ENST00000678264.1:c.*1389T>G
|
ENSP00000503157.1:n.*1389T>G
|
|
|
ENST00000678303.1:c.1922T>G
|
ENSP00000503696.1:p.Leu641Arg
|
|
|
ENST00000678366.1:c.*2261T>G
|
ENSP00000504353.1:n.*2261T>G
|
|
|
ENST00000678546.1:c.*1957T>G
|
ENSP00000503062.1:n.*1957T>G
|
|
|
ENST00000678548.1:c.*2151T>G
|
ENSP00000503934.1:n.*2151T>G
|
|
|
ENST00000678626.1:n.1848T>G
|
|
|
|
ENST00000678739.1:c.*2178T>G
|
ENSP00000503806.1:n.*2178T>G
|
|
|
ENST00000678833.1:c.*1764T>G
|
ENSP00000503893.1:n.*1764T>G
|
|
|
ENST00000679023.1:c.1850T>G
|
ENSP00000503718.1:p.Leu617Arg
|
|
|
ENST00000679076.1:c.1631T>G
|
|
|
|
ENST00000679111.1:c.*768T>G
|
ENSP00000504257.1:n.*768T>G
|
|
|
ENST00000679189.1:c.1661T>G
|
ENSP00000503356.1:p.Leu554Arg
|
|
|
ENST00000341012.11:c.1850T>G
|
ENSP00000343034.7:p.Leu617Arg
|
|
|
ENST00000372220.4:c.875T>G
|
ENSP00000361294.4:p.Leu292Arg
|
|
|
ENST00000372228.7:c.2078T>G
|
ENSP00000361302.3:p.Leu693Arg
|
|
|
ENST00000402686.7:c.2012T>G
|
ENSP00000385797.3:p.Leu671Arg
|
|
|
ENST00000404875.6:c.1661T>G
|
ENSP00000384531.2:p.Leu554Arg
|
|
|
ENST00000423007.5:c.2012T>G
|
ENSP00000404119.1:p.Leu671Arg
|
|
|
ENST00000485278.5:n.2562T>G
|
|
|
|
NM_001077365.1:c.2012T>G
|
NP_001070833.1:p.Leu671Arg
|
|
|
NM_001077366.1:c.1850T>G
|
NP_001070834.1:p.Leu617Arg
|
|
|
NM_001136113.1:c.2012T>G
|
NP_001129585.1:p.Leu671Arg
|
|
|
NM_001136114.1:c.1661T>G
|
NP_001129586.1:p.Leu554Arg
|
|
|
NM_007171.3:c.2078T>G
|
NP_009102.3:p.Leu693Arg
|
|
|
XM_005272156.1:c.2078T>G
|
XP_005272213.1:p.Leu693Arg
|
|
|
XM_005272158.1:c.1916T>G
|
XP_005272215.1:p.Leu639Arg
|
|
|
XM_005272159.1:c.1727T>G
|
XP_005272216.1:p.Leu576Arg
|
|
|
XM_005272162.1:c.881T>G
|
XP_005272219.1:p.Leu294Arg
|
|
|
XM_006716932.1:c.1727T>G
|
XP_006716995.1:p.Leu576Arg
|
|
|
XM_011518140.1:c.1931T>G
|
XP_011516442.1:p.Leu644Arg
|
|
|
XM_011518141.1:c.1865T>G
|
XP_011516443.1:p.Leu622Arg
|
|
|
XM_011518142.1:c.1769T>G
|
XP_011516444.1:p.Leu590Arg
|
|
|
XM_011518143.1:c.1763T>G
|
XP_011516445.1:p.Leu588Arg
|
|
|
XM_011518145.1:c.1622T>G
|
XP_011516447.1:p.Leu541Arg
|
|
|
XM_011518147.1:c.950T>G
|
XP_011516449.1:p.Leu317Arg
|
|
|
XR_929703.1:n.2254T>G
|
|
|
|
NM_001353193.1:c.2078T>G
|
NP_001340122.1:p.Leu693Arg
|
|
|
NM_001353194.1:c.1850T>G
|
NP_001340123.1:p.Leu617Arg
|
|
|
NM_001353195.1:c.1661T>G
|
NP_001340124.1:p.Leu554Arg
|
|
|
NM_001353196.1:c.1922T>G
|
NP_001340125.1:p.Leu641Arg
|
|
|
NM_001353197.1:c.1916T>G
|
NP_001340126.1:p.Leu639Arg
|
|
|
NM_001353198.1:c.1916T>G
|
NP_001340127.1:p.Leu639Arg
|
|
|
NM_001353199.1:c.1727T>G
|
NP_001340128.1:p.Leu576Arg
|
|
|
NM_001353200.1:c.1556T>G
|
NP_001340129.1:p.Leu519Arg
|
|
|
NR_148391.1:n.2062T>G
|
|
|
|
NR_148392.1:n.2280T>G
|
|
|
|
NR_148393.1:n.2201T>G
|
|
|
|
NR_148394.1:n.1955T>G
|
|
|
|
NR_148395.1:n.2353T>G
|
|
|
|
NR_148396.1:n.1987T>G
|
|
|
|
NR_148397.1:n.2112T>G
|
|
|
|
NR_148398.1:n.2067T>G
|
|
|
|
NR_148399.1:n.2593T>G
|
|
|
|
NR_148400.1:n.2192T>G
|
|
|
|
XM_005272162.3:c.881T>G
|
XP_005272219.1:p.Leu294Arg
|
|
|
XM_006716932.2:c.1727T>G
|
XP_006716995.1:p.Leu576Arg
|
|
|
XM_011518140.2:c.1931T>G
|
XP_011516442.1:p.Leu644Arg
|
|
|
XM_011518141.2:c.1865T>G
|
XP_011516443.1:p.Leu622Arg
|
|
|
XM_011518142.2:c.1769T>G
|
XP_011516444.1:p.Leu590Arg
|
|
|
XM_011518143.2:c.1763T>G
|
XP_011516445.1:p.Leu588Arg
|
|
|
XM_011518145.2:c.1622T>G
|
XP_011516447.1:p.Leu541Arg
|
|
|
XM_017014205.2:c.881T>G
|
XP_016869694.1:p.Leu294Arg
|
|
|
XM_024447380.1:c.881T>G
|
XP_024303148.1:p.Leu294Arg
|
|
|
XM_024447381.1:c.1187T>G
|
XP_024303149.1:p.Leu396Arg
|
|
|
XM_024447382.1:c.881T>G
|
XP_024303150.1:p.Leu294Arg
|
|
|
XR_001746160.2:n.2182T>G
|
|
|
|
XR_001746162.2:n.2387T>G
|
|
|
|
XR_001746164.1:n.2104T>G
|
|
|
|
XR_001746166.2:n.2399T>G
|
|
|
|
NM_001077365.2:c.2012T>G
MANE Select
|
NP_001070833.1:p.Leu671Arg
|
|
|
NM_001077366.2:c.1850T>G
|
NP_001070834.1:p.Leu617Arg
|
|
|
NM_001136113.2:c.2012T>G
|
NP_001129585.1:p.Leu671Arg
|
|
|
NM_001136114.2:c.1661T>G
|
NP_001129586.1:p.Leu554Arg
|
|
|
NM_001353193.2:c.2078T>G
|
NP_001340122.2:p.Leu693Arg
|
|
|
NM_001353194.2:c.1850T>G
|
NP_001340123.1:p.Leu617Arg
|
|
|
NM_001353195.2:c.1661T>G
|
NP_001340124.1:p.Leu554Arg
|
|
|
NM_001353196.2:c.1922T>G
|
NP_001340125.1:p.Leu641Arg
|
|
|
NM_001353197.2:c.1916T>G
|
NP_001340126.2:p.Leu639Arg
|
|
|
NM_001353198.2:c.1916T>G
|
NP_001340127.2:p.Leu639Arg
|
|
|
NM_001353199.2:c.1727T>G
|
NP_001340128.2:p.Leu576Arg
|
|
|
NM_001353200.2:c.1556T>G
|
NP_001340129.1:p.Leu519Arg
|
|
|
NM_001374689.1:c.2000T>G
|
NP_001361618.1:p.Leu667Arg
|
|
|
NM_001374690.1:c.1793T>G
|
NP_001361619.1:p.Leu598Arg
|
|
|
NM_001374691.1:c.1661T>G
|
NP_001361620.1:p.Leu554Arg
|
|
|
NM_001374692.1:c.1661T>G
|
NP_001361621.1:p.Leu554Arg
|
|
|
NM_001374693.1:c.1661T>G
|
NP_001361622.1:p.Leu554Arg
|
|
|
NM_001374695.1:c.1622T>G
|
NP_001361624.1:p.Leu541Arg
|
|
|
NM_007171.4:c.2078T>G
|
NP_009102.4:p.Leu693Arg
|
|
|
NR_148391.2:n.2046T>G
|
|
|
|
NR_148392.2:n.2264T>G
|
|
|
|
NR_148393.2:n.2185T>G
|
|
|
|
NR_148394.2:n.1939T>G
|
|
|
|
NR_148395.2:n.2337T>G
|
|
|
|
NR_148396.2:n.1971T>G
|
|
|
|
NR_148397.2:n.2096T>G
|
|
|
|
NR_148398.2:n.2051T>G
|
|
|
|
NR_148399.2:n.2577T>G
|
|
|
|
NR_148400.2:n.2176T>G
|
|
|
