|
NM_000726.5:c.615A>T
MANE Select
|
NP_000717.2:p.Lys205Asn
|
|
ENST00000539935.7:c.615A>T
MANE Select
|
ENSP00000438949.1:p.Lys205Asn
|
|
NM_000726.3:c.615A>T
|
NP_000717.2:p.Lys205Asn
|
|
NM_000726.4:c.615A>T
|
NP_000717.2:p.Lys205Asn
|
|
NM_001005746.2:c.561A>T
|
NP_001005746.1:p.Lys187Asn
|
|
NM_001005746.3:c.561A>T
|
NP_001005746.1:p.Lys187Asn
|
|
NM_001005746.4:c.561A>T
|
NP_001005746.1:p.Lys187Asn
|
|
NM_001005747.2:c.513A>T
|
NP_001005747.1:p.Lys171Asn
|
|
NM_001005747.3:c.513A>T
|
NP_001005747.1:p.Lys171Asn
|
|
NM_001005747.4:c.513A>T
|
NP_001005747.1:p.Lys171Asn
|
|
NM_001145798.1:c.615A>T
|
NP_001139270.1:p.Lys205Asn
|
|
NM_001145798.2:c.615A>T
|
NP_001139270.1:p.Lys205Asn
|
|
NM_001320722.2:c.474A>T
|
NP_001307651.1:p.Lys158Asn
|
|
NM_001320722.3:c.474A>T
|
NP_001307651.1:p.Lys158Asn
|
|
NM_001330113.1:c.545-234A>T
|
NP_001317042.1:n.545-234A>T
|
|
NM_001330113.2:c.545-234A>T
|
NP_001317042.1:n.545-234A>T
|
|
NM_001330114.1:c.-36-234A>T
|
NP_001317043.1:n.-36-234A>T
|
|
NM_001330114.2:c.-36-234A>T
|
NP_001317043.1:n.-36-234A>T
|
|
NM_001330115.1:c.497-234A>T
|
NP_001317044.1:n.497-234A>T
|
|
NM_001330115.2:c.497-234A>T
|
NP_001317044.1:n.497-234A>T
|
|
NM_001330116.1:c.458-234A>T
|
NP_001317045.1:n.458-234A>T
|
|
NM_001330116.2:c.458-234A>T
|
NP_001317045.1:n.458-234A>T
|
|
NM_001330117.1:c.57A>T
|
NP_001317046.1:p.Lys19Asn
|
|
NM_001330117.2:c.57A>T
|
NP_001317046.1:p.Lys19Asn
|
|
NM_001330118.1:c.474A>T
|
NP_001317047.1:p.Lys158Asn
|
|
ENST00000201943.10:c.615A>T
|
ENSP00000201943.5:p.Lys205Asn
|
|
ENST00000201943.9:c.615A>T
|
ENSP00000201943.5:p.Lys205Asn
|
|
ENST00000360283.10:c.513A>T
|
ENSP00000353425.7:p.Lys171Asn
|
|
ENST00000360283.11:c.513A>T
|
ENSP00000353425.8:p.Lys171Asn
|
|
ENST00000397327.6:c.474A>T
|
ENSP00000380490.2:p.Lys158Asn
|
|
ENST00000397327.7:c.474A>T
|
ENSP00000380490.3:p.Lys158Asn
|
|
ENST00000427385.5:c.561A>T
|
ENSP00000410978.1:p.Lys187Asn
|
|
ENST00000427385.6:c.492A>T
|
ENSP00000410978.2:p.Lys164Asn
|
|
ENST00000434468.2:c.351A>T
|
ENSP00000399242.2:p.Lys117Asn
|
|
ENST00000439467.5:c.600A>T
|
ENSP00000390161.1:p.Lys200Asn
|
|
ENST00000439467.6:c.474A>T
|
ENSP00000390161.2:p.Lys158Asn
|
|
ENST00000470066.1:n.520A>T
|
|
|
ENST00000470066.2:n.744A>T
|
|
|
ENST00000534999.5:c.513A>T
|
ENSP00000443893.1:p.Lys171Asn
|
|
ENST00000534999.6:c.513A>T
|
ENSP00000443893.1:p.Lys171Asn
|
|
ENST00000534999.7:c.513A>T
|
ENSP00000443893.1:p.Lys171Asn
|
|
ENST00000539935.5:c.615A>T
|
ENSP00000438949.1:p.Lys205Asn
|
|
ENST00000635738.1:c.513A>T
|
ENSP00000489881.1:p.Lys171Asn
|
|
ENST00000635743.1:n.742A>T
|
|
|
ENST00000635803.1:n.855A>T
|
|
|
ENST00000635904.1:c.474A>T
|
ENSP00000490430.1:p.Lys158Asn
|
|
ENST00000635930.1:c.57A>T
|
ENSP00000489953.1:p.Lys19Asn
|
|
ENST00000636108.1:c.474A>T
|
ENSP00000490176.1:p.Lys158Asn
|
|
ENST00000636129.1:c.561A>T
|
ENSP00000489912.1:p.Lys187Asn
|
|
ENST00000636130.1:c.474A>T
|
ENSP00000490607.1:p.Lys158Asn
|
|
ENST00000636350.1:c.390A>T
|
ENSP00000489621.1:p.Lys130Asn
|
|
ENST00000636380.1:c.457+1572A>T
|
ENSP00000490488.1:n.457+1572A>T
|
|
ENST00000636390.1:c.147-234A>T
|
|
|
ENST00000636442.1:c.438A>T
|
ENSP00000489779.1:p.Lys146Asn
|
|
ENST00000636507.1:c.474A>T
|
ENSP00000490252.1:p.Lys158Asn
|
|
ENST00000636598.1:c.474A>T
|
ENSP00000490247.1:p.Lys158Asn
|
|
ENST00000636617.1:c.419+5581A>T
|
ENSP00000490660.1:n.419+5581A>T
|
|
ENST00000636664.1:c.513A>T
|
ENSP00000490572.1:p.Lys171Asn
|
|
ENST00000636721.1:c.474A>T
|
ENSP00000490795.1:p.Lys158Asn
|
|
ENST00000636762.1:c.*17A>T
|
ENSP00000490918.1:n.*17A>T
|
|
ENST00000636773.1:c.474A>T
|
ENSP00000489818.1:p.Lys158Asn
|
|
ENST00000636785.1:c.561A>T
|
ENSP00000489788.1:p.Lys187Asn
|
|
ENST00000636810.1:n.2448A>T
|
|
|
ENST00000636831.1:n.2286A>T
|
|
|
ENST00000636834.1:n.2287A>T
|
|
|
ENST00000636901.1:c.513A>T
|
ENSP00000490145.1:p.Lys171Asn
|
|
ENST00000636947.1:c.513A>T
|
ENSP00000490337.1:p.Lys171Asn
|
|
ENST00000637007.1:c.241-234A>T
|
|
|
ENST00000637132.1:c.474A>T
|
ENSP00000490651.1:p.Lys158Asn
|
|
ENST00000637216.1:c.513A>T
|
ENSP00000490910.1:p.Lys171Asn
|
|
ENST00000637217.1:c.474A>T
|
ENSP00000490250.1:p.Lys158Asn
|
|
ENST00000637224.1:c.474A>T
|
ENSP00000490276.1:p.Lys158Asn
|
|
ENST00000637232.1:c.380+5581A>T
|
ENSP00000490138.1:n.380+5581A>T
|
|
ENST00000637284.1:c.57A>T
|
ENSP00000489787.1:p.Lys19Asn
|
|
ENST00000637309.1:c.615A>T
|
ENSP00000490127.1:p.Lys205Asn
|
|
ENST00000637312.1:c.497-234A>T
|
ENSP00000490144.1:n.497-234A>T
|
|
ENST00000637319.1:n.893A>T
|
|
|
ENST00000637330.1:c.*552A>T
|
ENSP00000490817.1:n.*552A>T
|
|
ENST00000637418.1:c.390A>T
|
ENSP00000489679.1:p.Lys130Asn
|
|
ENST00000637436.1:c.*433A>T
|
ENSP00000489746.1:n.*433A>T
|
|
ENST00000637491.1:c.513A>T
|
ENSP00000490510.1:p.Lys171Asn
|
|
ENST00000637514.1:c.57A>T
|
ENSP00000490304.1:p.Lys19Asn
|
|
ENST00000637530.1:n.733A>T
|
|
|
ENST00000637535.1:c.513A>T
|
ENSP00000490891.1:p.Lys171Asn
|
|
ENST00000637547.1:c.474A>T
|
ENSP00000490124.1:p.Lys158Asn
|
|
ENST00000637550.1:c.419+5581A>T
|
ENSP00000489943.1:n.419+5581A>T
|
|
ENST00000637559.1:c.513A>T
|
ENSP00000489697.1:p.Lys171Asn
|
|
ENST00000637622.1:n.893A>T
|
|
|
ENST00000637762.1:c.525A>T
|
ENSP00000489876.1:p.Lys175Asn
|
|
ENST00000637765.1:n.733A>T
|
|
|
ENST00000637773.1:n.2288A>T
|
|
|
ENST00000637779.1:c.497-234A>T
|
ENSP00000489732.1:n.497-234A>T
|
|
ENST00000637828.1:c.474A>T
|
ENSP00000490443.1:p.Lys158Asn
|
|
ENST00000637884.1:n.3291A>T
|
|
|
ENST00000637913.1:n.600A>T
|
|
|
ENST00000637956.1:c.57A>T
|
ENSP00000490298.1:p.Lys19Asn
|
|
ENST00000638005.1:c.561A>T
|
ENSP00000489677.1:p.Lys187Asn
|
|
ENST00000638040.1:c.458-234A>T
|
ENSP00000489883.1:n.458-234A>T
|
|
ENST00000638056.1:c.232-234A>T
|
|
|
ENST00000638091.1:c.513A>T
|
ENSP00000489967.1:p.Lys171Asn
|
|
ENST00000638150.1:c.496+1572A>T
|
ENSP00000490501.1:n.496+1572A>T
|
|
XM_005246838.2:c.513A>T
|
XP_005246895.1:p.Lys171Asn
|
|
XM_006712731.1:c.474A>T
|
XP_006712794.1:p.Lys158Asn
|
|
XM_011511795.1:c.474A>T
|
XP_011510097.1:p.Lys158Asn
|
|
XM_011511796.1:c.471A>T
|
XP_011510098.1:p.Lys157Asn
|
|
XM_011511796.2:c.471A>T
|
XP_011510098.1:p.Lys157Asn
|
|
XM_011511797.1:c.599-234A>T
|
XP_011510099.1:n.599-234A>T
|
|
XM_011511797.3:c.599-234A>T
|
XP_011510099.1:n.599-234A>T
|
|
XM_011511798.1:c.615A>T
|
XP_011510100.1:p.Lys205Asn
|
|
XM_011511799.1:c.615A>T
|
XP_011510101.1:p.Lys205Asn
|
|
XM_011511800.1:c.-36-234A>T
|
XP_011510102.1:n.-36-234A>T
|
|
XM_017004885.1:c.-36-234A>T
|
XP_016860374.1:n.-36-234A>T
|
|
XM_017004888.2:c.545-234A>T
|
XP_016860377.1:n.545-234A>T
|
|
XM_024453128.1:c.57A>T
|
XP_024308896.1:p.Lys19Asn
|
|
XR_001738928.1:n.2401A>T
|
|
|
XR_001738935.1:n.752A>T
|
|
|
XR_001738937.2:n.893A>T
|
|
|
XR_001738938.2:n.893A>T
|
|
|
XR_001738939.1:n.752A>T
|
|
|
XR_001738940.2:n.893A>T
|
|
|
XR_002959337.1:n.768A>T
|
|
|
XR_002959338.1:n.893A>T
|
|
|
XR_923022.1:n.1592A>T
|
|
|
XR_923022.3:n.768A>T
|
|
|
XR_923023.1:n.1592A>T
|
|
