|
ENST00000341012.13:c.1688C>G
|
ENSP00000343034.7:p.Ala563Gly
|
|
|
ENST00000404875.7:n.2390C>G
|
|
|
|
ENST00000423007.6:c.1907C>G
|
ENSP00000404119.2:p.Ala636Gly
|
|
|
ENST00000677295.2:c.*2194C>G
|
ENSP00000504346.2:n.*2194C>G
|
|
|
ENST00000678264.2:c.*2033C>G
|
ENSP00000503157.2:n.*2033C>G
|
|
|
ENST00000682070.1:n.2291-131C>G
|
|
|
|
ENST00000682813.1:n.2254C>G
|
|
|
|
ENST00000683392.1:n.4573-131C>G
|
|
|
|
ENST00000683712.1:n.2255C>G
|
|
|
|
ENST00000683900.1:n.3750C>G
|
|
|
|
ENST00000684062.1:n.2516C>G
|
|
|
|
ENST00000684579.1:n.3696C>G
|
|
|
|
ENST00000684679.1:n.1077C>G
|
|
|
|
ENST00000341012.12:c.1688C>G
|
ENSP00000343034.7:p.Ala563Gly
|
|
|
ENST00000372220.5:c.719C>G
|
ENSP00000361294.5:p.Ala240Gly
|
|
|
ENST00000372228.9:c.1916C>G
|
ENSP00000361302.3:p.Ala639Gly
|
|
|
ENST00000402686.8:c.1850C>G
MANE Select
|
ENSP00000385797.4:p.Ala617Gly
|
|
|
ENST00000676640.1:c.1850C>G
|
ENSP00000503281.1:p.Ala617Gly
|
|
|
ENST00000676803.1:c.911C>G
|
ENSP00000503093.1:p.Ala304Gly
|
|
|
ENST00000676835.1:c.*1065C>G
|
ENSP00000502911.1:n.*1065C>G
|
|
|
ENST00000677029.1:c.1394C>G
|
ENSP00000502936.1:p.Ala465Gly
|
|
|
ENST00000677099.1:c.*1560C>G
|
ENSP00000504553.1:n.*1560C>G
|
|
|
ENST00000677216.1:c.1499C>G
|
ENSP00000503772.1:p.Ala500Gly
|
|
|
ENST00000677221.1:n.875C>G
|
|
|
|
ENST00000677295.1:c.*1203-131C>G
|
ENSP00000504346.1:n.*1203-131C>G
|
|
|
ENST00000677444.1:c.1795C>G
|
|
|
|
ENST00000677586.1:n.1217C>G
|
|
|
|
ENST00000677626.1:c.1499C>G
|
ENSP00000503552.1:p.Ala500Gly
|
|
|
ENST00000677853.1:c.*858C>G
|
ENSP00000503488.1:n.*858C>G
|
|
|
ENST00000678202.1:n.1009C>G
|
|
|
|
ENST00000678264.1:c.*1227C>G
|
ENSP00000503157.1:n.*1227C>G
|
|
|
ENST00000678303.1:c.1760C>G
|
ENSP00000503696.1:p.Ala587Gly
|
|
|
ENST00000678366.1:c.*2099C>G
|
ENSP00000504353.1:n.*2099C>G
|
|
|
ENST00000678546.1:c.*1795C>G
|
ENSP00000503062.1:n.*1795C>G
|
|
|
ENST00000678548.1:c.*1989C>G
|
ENSP00000503934.1:n.*1989C>G
|
|
|
ENST00000678626.1:n.1686C>G
|
|
|
|
ENST00000678739.1:c.*2147-131C>G
|
ENSP00000503806.1:n.*2147-131C>G
|
|
|
ENST00000678833.1:c.*1602C>G
|
ENSP00000503893.1:n.*1602C>G
|
|
|
ENST00000679023.1:c.1688C>G
|
ENSP00000503718.1:p.Ala563Gly
|
|
|
ENST00000679076.1:c.1469C>G
|
|
|
|
ENST00000679111.1:c.*606C>G
|
ENSP00000504257.1:n.*606C>G
|
|
|
ENST00000679189.1:c.1499C>G
|
ENSP00000503356.1:p.Ala500Gly
|
|
|
ENST00000341012.11:c.1688C>G
|
ENSP00000343034.7:p.Ala563Gly
|
|
|
ENST00000372220.4:c.713C>G
|
ENSP00000361294.4:p.Ala238Gly
|
|
|
ENST00000372228.7:c.1916C>G
|
ENSP00000361302.3:p.Ala639Gly
|
|
|
ENST00000402686.7:c.1850C>G
|
ENSP00000385797.3:p.Ala617Gly
|
|
|
ENST00000404875.6:c.1499C>G
|
ENSP00000384531.2:p.Ala500Gly
|
|
|
ENST00000423007.5:c.1850C>G
|
ENSP00000404119.1:p.Ala617Gly
|
|
|
ENST00000485278.5:n.2400C>G
|
|
|
|
ENST00000494883.1:n.393C>G
|
|
|
|
NM_001077365.1:c.1850C>G
|
NP_001070833.1:p.Ala617Gly
|
|
|
NM_001077366.1:c.1688C>G
|
NP_001070834.1:p.Ala563Gly
|
|
|
NM_001136113.1:c.1850C>G
|
NP_001129585.1:p.Ala617Gly
|
|
|
NM_001136114.1:c.1499C>G
|
NP_001129586.1:p.Ala500Gly
|
|
|
NM_007171.3:c.1916C>G
|
NP_009102.3:p.Ala639Gly
|
|
|
XM_005272156.1:c.1916C>G
|
XP_005272213.1:p.Ala639Gly
|
|
|
XM_005272158.1:c.1754C>G
|
XP_005272215.1:p.Ala585Gly
|
|
|
XM_005272159.1:c.1565C>G
|
XP_005272216.1:p.Ala522Gly
|
|
|
XM_005272162.1:c.719C>G
|
XP_005272219.1:p.Ala240Gly
|
|
|
XM_006716932.1:c.1565C>G
|
XP_006716995.1:p.Ala522Gly
|
|
|
XM_011518140.1:c.1769C>G
|
XP_011516442.1:p.Ala590Gly
|
|
|
XM_011518141.1:c.1703C>G
|
XP_011516443.1:p.Ala568Gly
|
|
|
XM_011518142.1:c.1607C>G
|
XP_011516444.1:p.Ala536Gly
|
|
|
XM_011518143.1:c.1601C>G
|
XP_011516445.1:p.Ala534Gly
|
|
|
XM_011518145.1:c.1460C>G
|
XP_011516447.1:p.Ala487Gly
|
|
|
XM_011518147.1:c.788C>G
|
XP_011516449.1:p.Ala263Gly
|
|
|
XR_929703.1:n.2092C>G
|
|
|
|
NM_001353193.1:c.1916C>G
|
NP_001340122.1:p.Ala639Gly
|
|
|
NM_001353194.1:c.1688C>G
|
NP_001340123.1:p.Ala563Gly
|
|
|
NM_001353195.1:c.1499C>G
|
NP_001340124.1:p.Ala500Gly
|
|
|
NM_001353196.1:c.1760C>G
|
NP_001340125.1:p.Ala587Gly
|
|
|
NM_001353197.1:c.1754C>G
|
NP_001340126.1:p.Ala585Gly
|
|
|
NM_001353198.1:c.1754C>G
|
NP_001340127.1:p.Ala585Gly
|
|
|
NM_001353199.1:c.1565C>G
|
NP_001340128.1:p.Ala522Gly
|
|
|
NM_001353200.1:c.1394C>G
|
NP_001340129.1:p.Ala465Gly
|
|
|
NR_148391.1:n.1900C>G
|
|
|
|
NR_148392.1:n.2118C>G
|
|
|
|
NR_148393.1:n.2039C>G
|
|
|
|
NR_148394.1:n.1793C>G
|
|
|
|
NR_148395.1:n.2191C>G
|
|
|
|
NR_148396.1:n.1825C>G
|
|
|
|
NR_148397.1:n.1950C>G
|
|
|
|
NR_148398.1:n.1905C>G
|
|
|
|
NR_148399.1:n.2431C>G
|
|
|
|
NR_148400.1:n.2030C>G
|
|
|
|
XM_005272162.3:c.719C>G
|
XP_005272219.1:p.Ala240Gly
|
|
|
XM_006716932.2:c.1565C>G
|
XP_006716995.1:p.Ala522Gly
|
|
|
XM_011518140.2:c.1769C>G
|
XP_011516442.1:p.Ala590Gly
|
|
|
XM_011518141.2:c.1703C>G
|
XP_011516443.1:p.Ala568Gly
|
|
|
XM_011518142.2:c.1607C>G
|
XP_011516444.1:p.Ala536Gly
|
|
|
XM_011518143.2:c.1601C>G
|
XP_011516445.1:p.Ala534Gly
|
|
|
XM_011518145.2:c.1460C>G
|
XP_011516447.1:p.Ala487Gly
|
|
|
XM_017014205.2:c.719C>G
|
XP_016869694.1:p.Ala240Gly
|
|
|
XM_024447380.1:c.719C>G
|
XP_024303148.1:p.Ala240Gly
|
|
|
XM_024447381.1:c.1025C>G
|
XP_024303149.1:p.Ala342Gly
|
|
|
XM_024447382.1:c.719C>G
|
XP_024303150.1:p.Ala240Gly
|
|
|
XR_001746160.2:n.2020C>G
|
|
|
|
XR_001746162.2:n.2225C>G
|
|
|
|
XR_001746164.1:n.1942C>G
|
|
|
|
XR_001746166.2:n.2237C>G
|
|
|
|
NM_001077365.2:c.1850C>G
MANE Select
|
NP_001070833.1:p.Ala617Gly
|
|
|
NM_001077366.2:c.1688C>G
|
NP_001070834.1:p.Ala563Gly
|
|
|
NM_001136113.2:c.1850C>G
|
NP_001129585.1:p.Ala617Gly
|
|
|
NM_001136114.2:c.1499C>G
|
NP_001129586.1:p.Ala500Gly
|
|
|
NM_001353193.2:c.1916C>G
|
NP_001340122.2:p.Ala639Gly
|
|
|
NM_001353194.2:c.1688C>G
|
NP_001340123.1:p.Ala563Gly
|
|
|
NM_001353195.2:c.1499C>G
|
NP_001340124.1:p.Ala500Gly
|
|
|
NM_001353196.2:c.1760C>G
|
NP_001340125.1:p.Ala587Gly
|
|
|
NM_001353197.2:c.1754C>G
|
NP_001340126.2:p.Ala585Gly
|
|
|
NM_001353198.2:c.1754C>G
|
NP_001340127.2:p.Ala585Gly
|
|
|
NM_001353199.2:c.1565C>G
|
NP_001340128.2:p.Ala522Gly
|
|
|
NM_001353200.2:c.1394C>G
|
NP_001340129.1:p.Ala465Gly
|
|
|
NM_001374689.1:c.1838C>G
|
NP_001361618.1:p.Ala613Gly
|
|
|
NM_001374690.1:c.1631C>G
|
NP_001361619.1:p.Ala544Gly
|
|
|
NM_001374691.1:c.1499C>G
|
NP_001361620.1:p.Ala500Gly
|
|
|
NM_001374692.1:c.1499C>G
|
NP_001361621.1:p.Ala500Gly
|
|
|
NM_001374693.1:c.1499C>G
|
NP_001361622.1:p.Ala500Gly
|
|
|
NM_001374695.1:c.1460C>G
|
NP_001361624.1:p.Ala487Gly
|
|
|
NM_007171.4:c.1916C>G
|
NP_009102.4:p.Ala639Gly
|
|
|
NR_148391.2:n.1884C>G
|
|
|
|
NR_148392.2:n.2102C>G
|
|
|
|
NR_148393.2:n.2023C>G
|
|
|
|
NR_148394.2:n.1777C>G
|
|
|
|
NR_148395.2:n.2175C>G
|
|
|
|
NR_148396.2:n.1809C>G
|
|
|
|
NR_148397.2:n.1934C>G
|
|
|
|
NR_148398.2:n.1889C>G
|
|
|
|
NR_148399.2:n.2415C>G
|
|
|
|
NR_148400.2:n.2014C>G
|
|
|
