|
ENST00000341012.13:c.1311C>G
|
ENSP00000343034.7:p.His437Gln
|
|
|
ENST00000404875.7:n.2013C>G
|
|
|
|
ENST00000423007.6:c.1530C>G
|
ENSP00000404119.2:p.His510Gln
|
|
|
ENST00000677295.2:c.*1817C>G
|
ENSP00000504346.2:n.*1817C>G
|
|
|
ENST00000678264.2:c.*1656C>G
|
ENSP00000503157.2:n.*1656C>G
|
|
|
ENST00000682070.1:n.1938C>G
|
|
|
|
ENST00000682539.1:c.411C>G
|
|
|
|
ENST00000682813.1:n.1877C>G
|
|
|
|
ENST00000683392.1:n.4220C>G
|
|
|
|
ENST00000683712.1:n.1878C>G
|
|
|
|
ENST00000683900.1:n.3373C>G
|
|
|
|
ENST00000684062.1:n.2139C>G
|
|
|
|
ENST00000684579.1:n.3319C>G
|
|
|
|
ENST00000684679.1:n.700C>G
|
|
|
|
ENST00000341012.12:c.1311C>G
|
ENSP00000343034.7:p.His437Gln
|
|
|
ENST00000372220.5:c.342C>G
|
ENSP00000361294.5:p.His114Gln
|
|
|
ENST00000372228.9:c.1539C>G
|
ENSP00000361302.3:p.His513Gln
|
|
|
ENST00000402686.8:c.1473C>G
MANE Select
|
ENSP00000385797.4:p.His491Gln
|
|
|
ENST00000676640.1:c.1473C>G
|
ENSP00000503281.1:p.His491Gln
|
|
|
ENST00000676803.1:c.648C>G
|
ENSP00000503093.1:p.His216Gln
|
|
|
ENST00000676835.1:c.*688C>G
|
ENSP00000502911.1:n.*688C>G
|
|
|
ENST00000677029.1:c.1017C>G
|
ENSP00000502936.1:p.His339Gln
|
|
|
ENST00000677099.1:c.*1183C>G
|
ENSP00000504553.1:n.*1183C>G
|
|
|
ENST00000677216.1:c.1122C>G
|
ENSP00000503772.1:p.His374Gln
|
|
|
ENST00000677221.1:n.498C>G
|
|
|
|
ENST00000677295.1:c.*850C>G
|
ENSP00000504346.1:n.*850C>G
|
|
|
ENST00000677444.1:c.1418C>G
|
|
|
|
ENST00000677586.1:n.954C>G
|
|
|
|
ENST00000677626.1:c.1122C>G
|
ENSP00000503552.1:p.His374Gln
|
|
|
ENST00000677677.1:n.1433C>G
|
|
|
|
ENST00000677853.1:c.*481C>G
|
ENSP00000503488.1:n.*481C>G
|
|
|
ENST00000678202.1:n.632C>G
|
|
|
|
ENST00000678264.1:c.*850C>G
|
ENSP00000503157.1:n.*850C>G
|
|
|
ENST00000678303.1:c.1383C>G
|
ENSP00000503696.1:p.His461Gln
|
|
|
ENST00000678366.1:c.*1722C>G
|
ENSP00000504353.1:n.*1722C>G
|
|
|
ENST00000678546.1:c.*1418C>G
|
ENSP00000503062.1:n.*1418C>G
|
|
|
ENST00000678548.1:c.*1545C>G
|
ENSP00000503934.1:n.*1545C>G
|
|
|
ENST00000678626.1:n.1309C>G
|
|
|
|
ENST00000678733.1:c.554C>G
|
|
|
|
ENST00000678739.1:c.*1799C>G
|
ENSP00000503806.1:n.*1799C>G
|
|
|
ENST00000678833.1:c.*920C>G
|
ENSP00000503893.1:n.*920C>G
|
|
|
ENST00000679023.1:c.1311C>G
|
ENSP00000503718.1:p.His437Gln
|
|
|
ENST00000679076.1:c.1092C>G
|
|
|
|
ENST00000679111.1:c.*229C>G
|
ENSP00000504257.1:n.*229C>G
|
|
|
ENST00000679189.1:c.1122C>G
|
ENSP00000503356.1:p.His374Gln
|
|
|
ENST00000341012.11:c.1311C>G
|
ENSP00000343034.7:p.His437Gln
|
|
|
ENST00000372220.4:c.336C>G
|
ENSP00000361294.4:p.His112Gln
|
|
|
ENST00000372228.7:c.1539C>G
|
ENSP00000361302.3:p.His513Gln
|
|
|
ENST00000402686.7:c.1473C>G
|
ENSP00000385797.3:p.His491Gln
|
|
|
ENST00000404875.6:c.1122C>G
|
ENSP00000384531.2:p.His374Gln
|
|
|
ENST00000423007.5:c.1473C>G
|
ENSP00000404119.1:p.His491Gln
|
|
|
ENST00000467848.1:n.177C>G
|
|
|
|
ENST00000485278.5:n.2028C>G
|
|
|
|
NM_001077365.1:c.1473C>G
|
NP_001070833.1:p.His491Gln
|
|
|
NM_001077366.1:c.1311C>G
|
NP_001070834.1:p.His437Gln
|
|
|
NM_001136113.1:c.1473C>G
|
NP_001129585.1:p.His491Gln
|
|
|
NM_001136114.1:c.1122C>G
|
NP_001129586.1:p.His374Gln
|
|
|
NM_007171.3:c.1539C>G
|
NP_009102.3:p.His513Gln
|
|
|
XM_005272156.1:c.1539C>G
|
XP_005272213.1:p.His513Gln
|
|
|
XM_005272158.1:c.1377C>G
|
XP_005272215.1:p.His459Gln
|
|
|
XM_005272159.1:c.1188C>G
|
XP_005272216.1:p.His396Gln
|
|
|
XM_005272162.1:c.342C>G
|
XP_005272219.1:p.His114Gln
|
|
|
XM_006716932.1:c.1188C>G
|
XP_006716995.1:p.His396Gln
|
|
|
XM_011518140.1:c.1392C>G
|
XP_011516442.1:p.His464Gln
|
|
|
XM_011518141.1:c.1326C>G
|
XP_011516443.1:p.His442Gln
|
|
|
XM_011518142.1:c.1230C>G
|
XP_011516444.1:p.His410Gln
|
|
|
XM_011518143.1:c.1224C>G
|
XP_011516445.1:p.His408Gln
|
|
|
XM_011518145.1:c.1083C>G
|
XP_011516447.1:p.His361Gln
|
|
|
XM_011518147.1:c.411C>G
|
XP_011516449.1:p.His137Gln
|
|
|
XR_929703.1:n.1715C>G
|
|
|
|
NM_001353193.1:c.1539C>G
|
NP_001340122.1:p.His513Gln
|
|
|
NM_001353194.1:c.1311C>G
|
NP_001340123.1:p.His437Gln
|
|
|
NM_001353195.1:c.1122C>G
|
NP_001340124.1:p.His374Gln
|
|
|
NM_001353196.1:c.1383C>G
|
NP_001340125.1:p.His461Gln
|
|
|
NM_001353197.1:c.1377C>G
|
NP_001340126.1:p.His459Gln
|
|
|
NM_001353198.1:c.1377C>G
|
NP_001340127.1:p.His459Gln
|
|
|
NM_001353199.1:c.1188C>G
|
NP_001340128.1:p.His396Gln
|
|
|
NM_001353200.1:c.1017C>G
|
NP_001340129.1:p.His339Gln
|
|
|
NR_148391.1:n.1523C>G
|
|
|
|
NR_148392.1:n.1741C>G
|
|
|
|
NR_148393.1:n.1662C>G
|
|
|
|
NR_148394.1:n.1416C>G
|
|
|
|
NR_148395.1:n.1814C>G
|
|
|
|
NR_148396.1:n.1448C>G
|
|
|
|
NR_148397.1:n.1573C>G
|
|
|
|
NR_148398.1:n.1528C>G
|
|
|
|
NR_148399.1:n.2054C>G
|
|
|
|
NR_148400.1:n.1653C>G
|
|
|
|
XM_005272162.3:c.342C>G
|
XP_005272219.1:p.His114Gln
|
|
|
XM_006716932.2:c.1188C>G
|
XP_006716995.1:p.His396Gln
|
|
|
XM_011518140.2:c.1392C>G
|
XP_011516442.1:p.His464Gln
|
|
|
XM_011518141.2:c.1326C>G
|
XP_011516443.1:p.His442Gln
|
|
|
XM_011518142.2:c.1230C>G
|
XP_011516444.1:p.His410Gln
|
|
|
XM_011518143.2:c.1224C>G
|
XP_011516445.1:p.His408Gln
|
|
|
XM_011518145.2:c.1083C>G
|
XP_011516447.1:p.His361Gln
|
|
|
XM_017014205.2:c.342C>G
|
XP_016869694.1:p.His114Gln
|
|
|
XM_024447380.1:c.342C>G
|
XP_024303148.1:p.His114Gln
|
|
|
XM_024447381.1:c.648C>G
|
XP_024303149.1:p.His216Gln
|
|
|
XM_024447382.1:c.342C>G
|
XP_024303150.1:p.His114Gln
|
|
|
XR_001746160.2:n.1643C>G
|
|
|
|
XR_001746162.2:n.1848C>G
|
|
|
|
XR_001746164.1:n.1565C>G
|
|
|
|
XR_001746166.2:n.1860C>G
|
|
|
|
NM_001077365.2:c.1473C>G
MANE Select
|
NP_001070833.1:p.His491Gln
|
|
|
NM_001077366.2:c.1311C>G
|
NP_001070834.1:p.His437Gln
|
|
|
NM_001136113.2:c.1473C>G
|
NP_001129585.1:p.His491Gln
|
|
|
NM_001136114.2:c.1122C>G
|
NP_001129586.1:p.His374Gln
|
|
|
NM_001353193.2:c.1539C>G
|
NP_001340122.2:p.His513Gln
|
|
|
NM_001353194.2:c.1311C>G
|
NP_001340123.1:p.His437Gln
|
|
|
NM_001353195.2:c.1122C>G
|
NP_001340124.1:p.His374Gln
|
|
|
NM_001353196.2:c.1383C>G
|
NP_001340125.1:p.His461Gln
|
|
|
NM_001353197.2:c.1377C>G
|
NP_001340126.2:p.His459Gln
|
|
|
NM_001353198.2:c.1377C>G
|
NP_001340127.2:p.His459Gln
|
|
|
NM_001353199.2:c.1188C>G
|
NP_001340128.2:p.His396Gln
|
|
|
NM_001353200.2:c.1017C>G
|
NP_001340129.1:p.His339Gln
|
|
|
NM_001374689.1:c.1461C>G
|
NP_001361618.1:p.His487Gln
|
|
|
NM_001374690.1:c.1365+407C>G
|
NP_001361619.1:n.1365+407C>G
|
|
|
NM_001374691.1:c.1122C>G
|
NP_001361620.1:p.His374Gln
|
|
|
NM_001374692.1:c.1122C>G
|
NP_001361621.1:p.His374Gln
|
|
|
NM_001374693.1:c.1122C>G
|
NP_001361622.1:p.His374Gln
|
|
|
NM_001374695.1:c.1083C>G
|
NP_001361624.1:p.His361Gln
|
|
|
NM_007171.4:c.1539C>G
|
NP_009102.4:p.His513Gln
|
|
|
NR_148391.2:n.1507C>G
|
|
|
|
NR_148392.2:n.1725C>G
|
|
|
|
NR_148393.2:n.1646C>G
|
|
|
|
NR_148394.2:n.1400C>G
|
|
|
|
NR_148395.2:n.1798C>G
|
|
|
|
NR_148396.2:n.1432C>G
|
|
|
|
NR_148397.2:n.1557C>G
|
|
|
|
NR_148398.2:n.1512C>G
|
|
|
|
NR_148399.2:n.2038C>G
|
|
|
|
NR_148400.2:n.1637C>G
|
|
|
