|
NM_000918.4:c.1199G>T
MANE Select
|
NP_000909.2:p.Cys400Phe
|
|
ENST00000331483.9:c.1199G>T
MANE Select
|
ENSP00000327801.4:p.Cys400Phe
|
|
NM_000918.3:c.1199G>T
|
NP_000909.2:p.Cys400Phe
|
|
ENST00000331483.8:c.1199G>T
|
ENSP00000327801.4:p.Cys400Phe
|
|
ENST00000415593.5:c.495G>T
|
|
|
ENST00000415593.6:c.929G>T
|
ENSP00000388117.2:p.Cys310Phe
|
|
ENST00000439918.6:c.1067G>T
|
ENSP00000388374.2:p.Cys356Phe
|
|
ENST00000439918.7:c.1067G>T
|
ENSP00000388374.2:p.Cys356Phe
|
|
ENST00000466567.3:n.5983G>T
|
|
|
ENST00000472244.6:n.1229G>T
|
|
|
ENST00000473021.2:n.509G>T
|
|
|
ENST00000474712.1:n.350G>T
|
|
|
ENST00000474712.2:n.1010G>T
|
|
|
ENST00000476482.1:n.386G>T
|
|
|
ENST00000476482.2:n.513G>T
|
|
|
ENST00000477607.7:n.1391G>T
|
|
|
ENST00000484286.2:n.1521G>T
|
|
|
ENST00000570907.6:c.1199G>T
|
ENSP00000461362.2:p.Cys400Phe
|
|
ENST00000571507.5:n.102G>T
|
|
|
ENST00000571507.6:n.507G>T
|
|
|
ENST00000571617.1:c.244-74G>T
|
ENSP00000458300.1:n.244-74G>T
|
|
ENST00000571617.2:c.1073G>T
|
ENSP00000458300.2:p.Cys358Phe
|
|
ENST00000574914.2:c.1091G>T
|
ENSP00000460612.2:p.Cys364Phe
|
|
ENST00000575069.5:c.*1014G>T
|
ENSP00000459211.1:n.*1014G>T
|
|
ENST00000575069.6:c.*1014G>T
|
ENSP00000459211.1:n.*1014G>T
|
|
ENST00000576390.5:c.234-2121G>T
|
ENSP00000461718.1:n.234-2121G>T
|
|
ENST00000576390.6:c.1078G>T
|
ENSP00000461718.2:p.Ala360Ser
|
|
ENST00000679366.1:c.*382G>T
|
ENSP00000506375.1:n.*382G>T
|
|
ENST00000679396.1:n.1326G>T
|
|
|
ENST00000679439.1:c.1199G>T
|
ENSP00000505377.1:p.Cys400Phe
|
|
ENST00000679455.1:c.*1010G>T
|
ENSP00000505971.1:n.*1010G>T
|
|
ENST00000679470.1:n.1603G>T
|
|
|
ENST00000679628.1:n.2629G>T
|
|
|
ENST00000679688.1:c.*820G>T
|
ENSP00000505272.1:n.*820G>T
|
|
ENST00000679889.1:c.*382G>T
|
ENSP00000506718.1:n.*382G>T
|
|
ENST00000680076.1:n.1425G>T
|
|
|
ENST00000680083.1:c.*933G>T
|
ENSP00000505575.1:n.*933G>T
|
|
ENST00000680105.1:c.*657G>T
|
ENSP00000506284.1:n.*657G>T
|
|
ENST00000680191.1:c.1274G>T
|
ENSP00000506544.1:p.Cys425Phe
|
|
ENST00000680208.1:n.1431G>T
|
|
|
ENST00000680226.1:c.1252G>T
|
ENSP00000505635.1:p.Ala418Ser
|
|
ENST00000680259.1:c.*1700G>T
|
ENSP00000504869.1:n.*1700G>T
|
|
ENST00000680368.1:n.2718G>T
|
|
|
ENST00000680400.1:c.230G>T
|
ENSP00000505382.1:p.Cys77Phe
|
|
ENST00000680416.1:c.*1498G>T
|
ENSP00000506306.1:n.*1498G>T
|
|
ENST00000680547.1:n.2028G>T
|
|
|
ENST00000680559.1:n.2315G>T
|
|
|
ENST00000680593.1:c.1199G>T
|
ENSP00000505754.1:p.Cys400Phe
|
|
ENST00000680719.1:n.1385G>T
|
|
|
ENST00000680732.1:c.*657G>T
|
ENSP00000505727.1:n.*657G>T
|
|
ENST00000680799.1:n.1376G>T
|
|
|
ENST00000680838.1:n.1890G>T
|
|
|
ENST00000680846.1:c.*820G>T
|
ENSP00000506612.1:n.*820G>T
|
|
ENST00000680847.1:c.*687G>T
|
ENSP00000506451.1:n.*687G>T
|
|
ENST00000680884.1:c.1301G>T
|
ENSP00000505953.1:p.Cys434Phe
|
|
ENST00000680909.1:c.*1526G>T
|
ENSP00000505545.1:n.*1526G>T
|
|
ENST00000680914.1:c.1139G>T
|
ENSP00000505149.1:p.Cys380Phe
|
|
ENST00000681020.1:c.1199G>T
|
ENSP00000506014.1:p.Cys400Phe
|
|
ENST00000681030.1:c.*1452G>T
|
ENSP00000505707.1:n.*1452G>T
|
|
ENST00000681031.1:c.*988G>T
|
ENSP00000505466.1:n.*988G>T
|
|
ENST00000681068.1:n.1839G>T
|
|
|
ENST00000681161.1:c.992G>T
|
ENSP00000505659.1:p.Cys331Phe
|
|
ENST00000681259.1:n.1884G>T
|
|
|
ENST00000681420.1:c.1199G>T
|
ENSP00000505993.1:p.Cys400Phe
|
|
ENST00000681485.1:n.1432G>T
|
|
|
ENST00000681515.1:c.*602G>T
|
ENSP00000505872.1:n.*602G>T
|
|
ENST00000681566.1:c.*510G>T
|
ENSP00000506218.1:n.*510G>T
|
|
ENST00000681571.1:n.2273G>T
|
|
|
ENST00000681614.1:n.1593G>T
|
|
|
ENST00000681693.1:c.1118G>T
|
ENSP00000505096.1:p.Cys373Phe
|
|
ENST00000681760.1:c.*1014G>T
|
ENSP00000506555.1:n.*1014G>T
|
|
ENST00000681835.1:n.2673G>T
|
|
|
ENST00000681872.1:n.1365G>T
|
|
|
ENST00000681933.1:c.*1016G>T
|
ENSP00000504864.1:n.*1016G>T
|
|
ENST00000681954.1:n.2376G>T
|
|
|
XM_024450777.1:c.1327G>T
|
XP_024306545.1:p.Ala443Ser
|
|
XR_002958014.1:n.1263G>T
|
|
