|
ENST00000341012.13:c.1870G>T
|
ENSP00000343034.7:p.Ala624Ser
|
|
|
ENST00000404875.7:n.2572G>T
|
|
|
|
ENST00000423007.6:c.2089G>T
|
ENSP00000404119.2:p.Ala697Ser
|
|
|
ENST00000677295.2:c.*2376G>T
|
ENSP00000504346.2:n.*2376G>T
|
|
|
ENST00000678264.2:c.*2215G>T
|
ENSP00000503157.2:n.*2215G>T
|
|
|
ENST00000682070.1:n.2342G>T
|
|
|
|
ENST00000682639.1:c.29G>T
|
|
|
|
ENST00000682813.1:n.2429G>T
|
|
|
|
ENST00000683231.1:c.29G>T
|
|
|
|
ENST00000683392.1:n.4624G>T
|
|
|
|
ENST00000683712.1:n.2437G>T
|
|
|
|
ENST00000683900.1:n.3932G>T
|
|
|
|
ENST00000684062.1:n.2698G>T
|
|
|
|
ENST00000684399.1:c.29G>T
|
|
|
|
ENST00000684579.1:n.3878G>T
|
|
|
|
ENST00000341012.12:c.1870G>T
|
ENSP00000343034.7:p.Ala624Ser
|
|
|
ENST00000372220.5:c.901G>T
|
ENSP00000361294.5:p.Ala301Ser
|
|
|
ENST00000372228.9:c.2098G>T
|
ENSP00000361302.3:p.Ala700Ser
|
|
|
ENST00000402686.8:c.2032G>T
MANE Select
|
ENSP00000385797.4:p.Ala678Ser
|
|
|
ENST00000676640.1:c.2032G>T
|
ENSP00000503281.1:p.Ala678Ser
|
|
|
ENST00000676803.1:c.1093G>T
|
ENSP00000503093.1:p.Ala365Ser
|
|
|
ENST00000676835.1:c.*1247G>T
|
ENSP00000502911.1:n.*1247G>T
|
|
|
ENST00000677029.1:c.1576G>T
|
ENSP00000502936.1:p.Ala526Ser
|
|
|
ENST00000677099.1:c.*1742G>T
|
ENSP00000504553.1:n.*1742G>T
|
|
|
ENST00000677216.1:c.1681G>T
|
ENSP00000503772.1:p.Ala561Ser
|
|
|
ENST00000677221.1:n.1057G>T
|
|
|
|
ENST00000677295.1:c.*1254G>T
|
ENSP00000504346.1:n.*1254G>T
|
|
|
ENST00000677444.1:c.1977G>T
|
|
|
|
ENST00000677586.1:n.1399G>T
|
|
|
|
ENST00000677626.1:c.1681G>T
|
ENSP00000503552.1:p.Ala561Ser
|
|
|
ENST00000677853.1:c.*1040G>T
|
ENSP00000503488.1:n.*1040G>T
|
|
|
ENST00000678264.1:c.*1409G>T
|
ENSP00000503157.1:n.*1409G>T
|
|
|
ENST00000678303.1:c.1942G>T
|
ENSP00000503696.1:p.Ala648Ser
|
|
|
ENST00000678366.1:c.*2281G>T
|
ENSP00000504353.1:n.*2281G>T
|
|
|
ENST00000678546.1:c.*1977G>T
|
ENSP00000503062.1:n.*1977G>T
|
|
|
ENST00000678548.1:c.*2171G>T
|
ENSP00000503934.1:n.*2171G>T
|
|
|
ENST00000678626.1:n.1868G>T
|
|
|
|
ENST00000678739.1:c.*2198G>T
|
ENSP00000503806.1:n.*2198G>T
|
|
|
ENST00000678833.1:c.*1784G>T
|
ENSP00000503893.1:n.*1784G>T
|
|
|
ENST00000679023.1:c.1870G>T
|
ENSP00000503718.1:p.Ala624Ser
|
|
|
ENST00000679076.1:c.1651G>T
|
|
|
|
ENST00000679111.1:c.*788G>T
|
ENSP00000504257.1:n.*788G>T
|
|
|
ENST00000679189.1:c.1681G>T
|
ENSP00000503356.1:p.Ala561Ser
|
|
|
ENST00000341012.11:c.1870G>T
|
ENSP00000343034.7:p.Ala624Ser
|
|
|
ENST00000372220.4:c.895G>T
|
ENSP00000361294.4:p.Ala299Ser
|
|
|
ENST00000372228.7:c.2098G>T
|
ENSP00000361302.3:p.Ala700Ser
|
|
|
ENST00000402686.7:c.2032G>T
|
ENSP00000385797.3:p.Ala678Ser
|
|
|
ENST00000404875.6:c.1681G>T
|
ENSP00000384531.2:p.Ala561Ser
|
|
|
ENST00000423007.5:c.2032G>T
|
ENSP00000404119.1:p.Ala678Ser
|
|
|
ENST00000485278.5:n.2582G>T
|
|
|
|
NM_001077365.1:c.2032G>T
|
NP_001070833.1:p.Ala678Ser
|
|
|
NM_001077366.1:c.1870G>T
|
NP_001070834.1:p.Ala624Ser
|
|
|
NM_001136113.1:c.2032G>T
|
NP_001129585.1:p.Ala678Ser
|
|
|
NM_001136114.1:c.1681G>T
|
NP_001129586.1:p.Ala561Ser
|
|
|
NM_007171.3:c.2098G>T
|
NP_009102.3:p.Ala700Ser
|
|
|
XM_005272156.1:c.2098G>T
|
XP_005272213.1:p.Ala700Ser
|
|
|
XM_005272158.1:c.1936G>T
|
XP_005272215.1:p.Ala646Ser
|
|
|
XM_005272159.1:c.1747G>T
|
XP_005272216.1:p.Ala583Ser
|
|
|
XM_005272162.1:c.901G>T
|
XP_005272219.1:p.Ala301Ser
|
|
|
XM_006716932.1:c.1747G>T
|
XP_006716995.1:p.Ala583Ser
|
|
|
XM_011518140.1:c.1951G>T
|
XP_011516442.1:p.Ala651Ser
|
|
|
XM_011518141.1:c.1885G>T
|
XP_011516443.1:p.Ala629Ser
|
|
|
XM_011518142.1:c.1789G>T
|
XP_011516444.1:p.Ala597Ser
|
|
|
XM_011518143.1:c.1783G>T
|
XP_011516445.1:p.Ala595Ser
|
|
|
XM_011518145.1:c.1642G>T
|
XP_011516447.1:p.Ala548Ser
|
|
|
XM_011518147.1:c.970G>T
|
XP_011516449.1:p.Ala324Ser
|
|
|
XR_929703.1:n.2274G>T
|
|
|
|
NM_001353193.1:c.2098G>T
|
NP_001340122.1:p.Ala700Ser
|
|
|
NM_001353194.1:c.1870G>T
|
NP_001340123.1:p.Ala624Ser
|
|
|
NM_001353195.1:c.1681G>T
|
NP_001340124.1:p.Ala561Ser
|
|
|
NM_001353196.1:c.1942G>T
|
NP_001340125.1:p.Ala648Ser
|
|
|
NM_001353197.1:c.1936G>T
|
NP_001340126.1:p.Ala646Ser
|
|
|
NM_001353198.1:c.1936G>T
|
NP_001340127.1:p.Ala646Ser
|
|
|
NM_001353199.1:c.1747G>T
|
NP_001340128.1:p.Ala583Ser
|
|
|
NM_001353200.1:c.1576G>T
|
NP_001340129.1:p.Ala526Ser
|
|
|
NR_148391.1:n.2082G>T
|
|
|
|
NR_148392.1:n.2300G>T
|
|
|
|
NR_148393.1:n.2221G>T
|
|
|
|
NR_148394.1:n.1975G>T
|
|
|
|
NR_148395.1:n.2373G>T
|
|
|
|
NR_148396.1:n.2007G>T
|
|
|
|
NR_148397.1:n.2132G>T
|
|
|
|
NR_148398.1:n.2087G>T
|
|
|
|
NR_148399.1:n.2613G>T
|
|
|
|
NR_148400.1:n.2212G>T
|
|
|
|
XM_005272162.3:c.901G>T
|
XP_005272219.1:p.Ala301Ser
|
|
|
XM_006716932.2:c.1747G>T
|
XP_006716995.1:p.Ala583Ser
|
|
|
XM_011518140.2:c.1951G>T
|
XP_011516442.1:p.Ala651Ser
|
|
|
XM_011518141.2:c.1885G>T
|
XP_011516443.1:p.Ala629Ser
|
|
|
XM_011518142.2:c.1789G>T
|
XP_011516444.1:p.Ala597Ser
|
|
|
XM_011518143.2:c.1783G>T
|
XP_011516445.1:p.Ala595Ser
|
|
|
XM_011518145.2:c.1642G>T
|
XP_011516447.1:p.Ala548Ser
|
|
|
XM_017014205.2:c.901G>T
|
XP_016869694.1:p.Ala301Ser
|
|
|
XM_024447380.1:c.901G>T
|
XP_024303148.1:p.Ala301Ser
|
|
|
XM_024447381.1:c.1207G>T
|
XP_024303149.1:p.Ala403Ser
|
|
|
XM_024447382.1:c.901G>T
|
XP_024303150.1:p.Ala301Ser
|
|
|
XR_001746160.2:n.2202G>T
|
|
|
|
XR_001746162.2:n.2407G>T
|
|
|
|
XR_001746164.1:n.2124G>T
|
|
|
|
XR_001746166.2:n.2419G>T
|
|
|
|
NM_001077365.2:c.2032G>T
MANE Select
|
NP_001070833.1:p.Ala678Ser
|
|
|
NM_001077366.2:c.1870G>T
|
NP_001070834.1:p.Ala624Ser
|
|
|
NM_001136113.2:c.2032G>T
|
NP_001129585.1:p.Ala678Ser
|
|
|
NM_001136114.2:c.1681G>T
|
NP_001129586.1:p.Ala561Ser
|
|
|
NM_001353193.2:c.2098G>T
|
NP_001340122.2:p.Ala700Ser
|
|
|
NM_001353194.2:c.1870G>T
|
NP_001340123.1:p.Ala624Ser
|
|
|
NM_001353195.2:c.1681G>T
|
NP_001340124.1:p.Ala561Ser
|
|
|
NM_001353196.2:c.1942G>T
|
NP_001340125.1:p.Ala648Ser
|
|
|
NM_001353197.2:c.1936G>T
|
NP_001340126.2:p.Ala646Ser
|
|
|
NM_001353198.2:c.1936G>T
|
NP_001340127.2:p.Ala646Ser
|
|
|
NM_001353199.2:c.1747G>T
|
NP_001340128.2:p.Ala583Ser
|
|
|
NM_001353200.2:c.1576G>T
|
NP_001340129.1:p.Ala526Ser
|
|
|
NM_001374689.1:c.2020G>T
|
NP_001361618.1:p.Ala674Ser
|
|
|
NM_001374690.1:c.1813G>T
|
NP_001361619.1:p.Ala605Ser
|
|
|
NM_001374691.1:c.1681G>T
|
NP_001361620.1:p.Ala561Ser
|
|
|
NM_001374692.1:c.1681G>T
|
NP_001361621.1:p.Ala561Ser
|
|
|
NM_001374693.1:c.1681G>T
|
NP_001361622.1:p.Ala561Ser
|
|
|
NM_001374695.1:c.1642G>T
|
NP_001361624.1:p.Ala548Ser
|
|
|
NM_007171.4:c.2098G>T
|
NP_009102.4:p.Ala700Ser
|
|
|
NR_148391.2:n.2066G>T
|
|
|
|
NR_148392.2:n.2284G>T
|
|
|
|
NR_148393.2:n.2205G>T
|
|
|
|
NR_148394.2:n.1959G>T
|
|
|
|
NR_148395.2:n.2357G>T
|
|
|
|
NR_148396.2:n.1991G>T
|
|
|
|
NR_148397.2:n.2116G>T
|
|
|
|
NR_148398.2:n.2071G>T
|
|
|
|
NR_148399.2:n.2597G>T
|
|
|
|
NR_148400.2:n.2196G>T
|
|
|
