ENST00000313771.10:n.1312G>C
|
|
|
ENST00000355740.8:c.*326G>C
|
ENSP00000347979.3:n.*326G>C
|
|
ENST00000357339.7:c.940G>C
|
ENSP00000349896.2:p.Val314Leu
|
|
ENST00000371857.8:n.2548G>C
|
|
|
ENST00000460510.6:c.286G>C
|
ENSP00000512812.1:p.Val96Leu
|
|
ENST00000466081.6:n.2652G>C
|
|
|
ENST00000477270.6:c.1048G>C
|
ENSP00000512813.1:p.Val350Leu
|
|
ENST00000479522.6:c.*432G>C
|
ENSP00000424113.1:n.*432G>C
|
|
ENST00000484444.6:c.*444G>C
|
ENSP00000420975.1:n.*444G>C
|
|
ENST00000488877.6:c.894G>C
|
ENSP00000425159.1:n.894G>C
|
|
ENST00000492756.7:c.*432G>C
|
ENSP00000422453.1:n.*432G>C
|
|
ENST00000494799.6:c.286G>C
|
ENSP00000512834.1:p.Val96Leu
|
|
ENST00000562983.3:c.286G>C
|
ENSP00000512845.1:p.Val96Leu
|
|
ENST00000612663.6:c.*405G>C
|
ENSP00000477997.3:n.*405G>C
|
|
ENST00000640140.2:n.1148G>C
|
|
|
ENST00000640250.2:n.502G>C
|
|
|
ENST00000640681.2:n.1107G>C
|
|
|
ENST00000696723.1:n.4636G>C
|
|
|
ENST00000696741.1:n.2641G>C
|
|
|
ENST00000696742.1:n.2368G>C
|
|
|
ENST00000696743.1:n.3771G>C
|
|
|
ENST00000696744.1:n.1042G>C
|
|
|
ENST00000696767.1:n.1337G>C
|
|
|
ENST00000696768.1:c.*326G>C
|
ENSP00000512859.1:n.*326G>C
|
|
ENST00000696769.1:n.2692G>C
|
|
|
ENST00000696771.1:c.286G>C
|
ENSP00000512860.1:p.Val96Leu
|
|
ENST00000696772.1:n.2606G>C
|
|
|
ENST00000696773.1:n.2345G>C
|
|
|
ENST00000696774.1:n.6113G>C
|
|
|
ENST00000696776.1:c.1096G>C
|
ENSP00000512861.1:p.Val366Leu
|
|
ENST00000696777.1:n.2411G>C
|
|
|
ENST00000696778.1:n.1439G>C
|
|
|
ENST00000696779.1:c.610G>C
|
ENSP00000512862.1:p.Val204Leu
|
|
ENST00000696780.1:c.1033G>C
|
ENSP00000512863.1:p.Val345Leu
|
|
ENST00000696781.1:c.748G>C
|
ENSP00000512864.1:p.Val250Leu
|
|
ENST00000696782.1:c.*405G>C
|
ENSP00000512865.1:n.*405G>C
|
|
ENST00000696783.1:n.2871G>C
|
|
|
ENST00000696992.1:n.2120G>C
|
|
|
ENST00000696995.1:n.4532G>C
|
|
|
ENST00000696996.1:n.2445G>C
|
|
|
ENST00000696997.1:c.*633G>C
|
ENSP00000513028.1:n.*633G>C
|
|
ENST00000696998.1:n.2257G>C
|
|
|
ENST00000696999.1:c.286G>C
|
ENSP00000513029.1:p.Val96Leu
|
|
ENST00000697036.1:c.*419G>C
|
ENSP00000513060.1:n.*419G>C
|
|
ENST00000697037.1:n.1038G>C
|
|
|
ENST00000697093.1:n.3239G>C
|
|
|
ENST00000697094.1:n.3586G>C
|
|
|
ENST00000697095.1:c.*2204G>C
|
ENSP00000513104.1:n.*2204G>C
|
|
ENST00000697096.1:n.2136G>C
|
|
|
ENST00000697097.1:c.286G>C
|
ENSP00000513105.1:p.Val96Leu
|
|
ENST00000562983.2:n.1189G>C
|
|
|
ENST00000690268.1:c.1084G>C
|
ENSP00000509810.1:p.Val362Leu
|
|
ENST00000355740.7:c.*329G>C
|
ENSP00000347979.3:n.*329G>C
|
|
ENST00000612663.5:c.*405G>C
|
ENSP00000477997.3:n.*405G>C
|
|
ENST00000640140.1:n.1175G>C
|
|
|
ENST00000640250.1:n.502G>C
|
|
|
ENST00000640681.1:n.1124G>C
|
|
|
ENST00000652046.1:c.1003G>C
MANE Select
|
ENSP00000498466.1:p.Val335Leu
|
|
ENST00000352159.8:c.*320G>C
|
ENSP00000345601.4:n.*320G>C
|
|
ENST00000355279.2:c.978G>C
|
ENSP00000347426.2:n.978G>C
|
|
ENST00000355740.6:c.1003G>C
|
ENSP00000347979.2:p.Val335Leu
|
|
ENST00000357339.6:c.940G>C
|
ENSP00000349896.2:p.Val314Leu
|
|
ENST00000479522.5:c.*432G>C
|
ENSP00000424113.1:n.*432G>C
|
|
ENST00000484444.5:c.*444G>C
|
ENSP00000420975.1:n.*444G>C
|
|
ENST00000488877.5:c.*444G>C
|
ENSP00000425159.1:n.*444G>C
|
|
ENST00000492756.5:c.831G>C
|
ENSP00000422453.1:n.831G>C
|
|
ENST00000494410.5:c.*361G>C
|
ENSP00000423755.1:n.*361G>C
|
|
ENST00000612663.4:c.*350G>C
|
ENSP00000477997.2:n.*350G>C
|
|
NM_000043.4:c.1003G>C , LRG_134t1:c.1003G>C
|
NP_000034.1:p.Val335Leu
|
|
NM_152871.2:c.940G>C
|
NP_690610.1:p.Val314Leu
|
|
NM_152872.2:c.*315G>C
|
NP_690611.1:n.*315G>C
|
|
NR_028033.2:n.1177G>C
|
|
|
NR_028034.2:n.1039G>C
|
|
|
NR_028035.2:n.1102G>C
|
|
|
NR_028036.2:n.1240G>C
|
|
|
XM_006717819.2:c.1084G>C
|
XP_006717882.1:p.Val362Leu
|
|
XM_011539764.1:c.1165G>C
|
XP_011538066.1:p.Val389Leu
|
|
XM_011539765.1:c.1102G>C
|
XP_011538067.1:p.Val368Leu
|
|
XM_011539766.1:c.1084G>C
|
XP_011538068.1:p.Val362Leu
|
|
XM_011539767.1:c.1048G>C
|
XP_011538069.1:p.Val350Leu
|
|
XR_945733.1:n.1008G>C
|
|
|
NM_000043.5:c.1003G>C
|
NP_000034.1:p.Val335Leu
|
|
NM_001320619.1:c.*326G>C
|
NP_001307548.1:n.*326G>C
|
|
NM_152871.3:c.940G>C
|
NP_690610.1:p.Val314Leu
|
|
NM_152872.3:c.*315G>C
|
NP_690611.1:n.*315G>C
|
|
NR_028033.3:n.1149G>C
|
|
|
NR_028034.3:n.1011G>C
|
|
|
NR_028035.3:n.1074G>C
|
|
|
NR_028036.3:n.1212G>C
|
|
|
NR_135313.1:n.1129G>C
|
|
|
NR_135314.1:n.1312G>C
|
|
|
NR_135315.1:n.1065G>C
|
|
|
XM_006717819.3:c.1084G>C
|
XP_006717882.1:p.Val362Leu
|
|
XM_011539764.2:c.1165G>C
|
XP_011538066.1:p.Val389Leu
|
|
XM_011539765.2:c.1102G>C
|
XP_011538067.1:p.Val368Leu
|
|
XM_011539766.2:c.1084G>C
|
XP_011538068.1:p.Val362Leu
|
|
XM_011539767.3:c.1048G>C
|
XP_011538069.1:p.Val350Leu
|
|
XR_945732.3:n.1071G>C
|
|
|
XR_945733.2:n.1008G>C
|
|
|
NM_000043.6:c.1003G>C
MANE Select
|
NP_000034.1:p.Val335Leu
|
|
NM_001320619.2:c.*326G>C
|
NP_001307548.1:n.*326G>C
|
|
NM_152871.4:c.940G>C
|
NP_690610.1:p.Val314Leu
|
|
NM_152872.4:c.*315G>C
|
NP_690611.1:n.*315G>C
|
|
NR_028033.4:n.910G>C
|
|
|
NR_028034.4:n.772G>C
|
|
|
NR_028035.4:n.835G>C
|
|
|
NR_028036.4:n.973G>C
|
|
|
NR_135313.2:n.890G>C
|
|
|
NR_135314.2:n.1169G>C
|
|
|
NR_135315.2:n.922G>C
|
|
|