|
NM_004006.3:c.10546G>T
MANE Select
|
NP_003997.2:p.Glu3516Ter
|
|
ENST00000357033.9:c.10546G>T
MANE Select
|
ENSP00000354923.3:p.Glu3516Ter
|
|
NM_000109.3:c.10522G>T
|
NP_000100.2:p.Glu3508Ter
|
|
NM_000109.4:c.10522G>T
|
NP_000100.3:p.Glu3508Ter
|
|
NM_004006.2:c.10546G>T , LRG_199t1:c.10546G>T
|
NP_003997.1:p.Glu3516Ter
|
|
NM_004009.3:c.10534G>T
|
NP_004000.1:p.Glu3512Ter
|
|
NM_004010.3:c.10177G>T
|
NP_004001.1:p.Glu3393Ter
|
|
NM_004011.3:c.6523G>T
|
NP_004002.2:p.Glu2175Ter
|
|
NM_004011.4:c.6523G>T
|
NP_004002.3:p.Glu2175Ter
|
|
NM_004012.3:c.6514G>T
|
NP_004003.1:p.Glu2172Ter
|
|
NM_004012.4:c.6514G>T
|
NP_004003.2:p.Glu2172Ter
|
|
NM_004013.2:c.3166G>T
|
NP_004004.1:p.Glu1056Ter
|
|
NM_004013.3:c.3166G>T
|
NP_004004.2:p.Glu1056Ter
|
|
NM_004014.2:c.2359G>T
|
NP_004005.1:p.Glu787Ter
|
|
NM_004014.3:c.2359G>T
|
NP_004005.2:p.Glu787Ter
|
|
NM_004015.2:c.1342G>T
|
NP_004006.1:p.Glu448Ter
|
|
NM_004015.3:c.1342G>T
|
NP_004006.1:p.Glu448Ter
|
|
NM_004016.2:c.1342G>T
|
NP_004007.1:p.Glu448Ter
|
|
NM_004016.3:c.1342G>T
|
NP_004007.1:p.Glu448Ter
|
|
NM_004017.2:c.1303G>T
|
NP_004008.1:p.Glu435Ter
|
|
NM_004017.3:c.1303G>T
|
NP_004008.1:p.Glu435Ter
|
|
NM_004018.2:c.1303G>T
|
NP_004009.1:p.Glu435Ter
|
|
NM_004018.3:c.1303G>T
|
NP_004009.1:p.Glu435Ter
|
|
NM_004020.3:c.2843+9219G>T
|
NP_004011.2:n.2843+9219G>T
|
|
NM_004020.4:c.2843+9219G>T
|
NP_004011.3:n.2843+9219G>T
|
|
NM_004021.2:c.3166G>T
|
NP_004012.1:p.Glu1056Ter
|
|
NM_004021.3:c.3166G>T
|
NP_004012.2:p.Glu1056Ter
|
|
NM_004022.2:c.3127G>T
|
NP_004013.1:p.Glu1043Ter
|
|
NM_004022.3:c.3127G>T
|
NP_004013.2:p.Glu1043Ter
|
|
NM_004023.2:c.2843+9219G>T
|
NP_004014.1:n.2843+9219G>T
|
|
NM_004023.3:c.2843+9219G>T
|
NP_004014.2:n.2843+9219G>T
|
|
ENST00000343523.6:c.2359G>T
|
ENSP00000340057.3:p.Glu787Ter
|
|
ENST00000343523.7:c.2401G>T
|
ENSP00000340057.4:p.Glu801Ter
|
|
ENST00000357033.8:c.10546G>T
|
ENSP00000354923.3:p.Glu3516Ter
|
|
ENST00000358062.6:c.3595G>T
|
ENSP00000350765.2:p.Glu1199Ter
|
|
ENST00000358062.7:c.5353G>T
|
ENSP00000350765.3:p.Glu1785Ter
|
|
ENST00000359836.5:c.3127G>T
|
ENSP00000352894.1:p.Glu1043Ter
|
|
ENST00000361471.8:c.1303G>T
|
ENSP00000354464.4:p.Glu435Ter
|
|
ENST00000378677.6:c.10534G>T
|
ENSP00000367948.2:p.Glu3512Ter
|
|
ENST00000378680.6:c.1019+9219G>T
|
ENSP00000367951.2:n.1019+9219G>T
|
|
ENST00000378702.8:c.1342G>T
|
ENSP00000367974.4:p.Glu448Ter
|
|
ENST00000378707.7:c.3166G>T
|
ENSP00000367979.3:p.Glu1056Ter
|
|
ENST00000378723.7:c.1342G>T
|
ENSP00000367997.3:p.Glu448Ter
|
|
ENST00000474231.5:c.3166G>T
|
ENSP00000417123.1:p.Glu1056Ter
|
|
ENST00000481143.2:n.107G>T
|
|
|
ENST00000541735.5:c.2843+9219G>T
|
ENSP00000444119.1:n.2843+9219G>T
|
|
ENST00000619831.4:c.10531G>T
|
ENSP00000479270.1:p.Glu3511Ter
|
|
ENST00000619831.5:c.6514G>T
|
ENSP00000479270.2:p.Glu2172Ter
|
|
ENST00000620040.4:c.10543G>T
|
ENSP00000478150.1:p.Glu3515Ter
|
|
ENST00000620040.5:c.3127G>T
|
ENSP00000478150.2:p.Glu1043Ter
|
|
ENST00000679437.1:c.208G>T
|
ENSP00000506629.1:p.Glu70Ter
|
|
ENST00000679641.1:c.*225+9219G>T
|
ENSP00000506135.1:n.*225+9219G>T
|
|
ENST00000679706.1:c.180+9219G>T
|
|
|
ENST00000679850.1:n.5557G>T
|
|
|
ENST00000680162.1:c.1219G>T
|
ENSP00000506634.1:p.Glu407Ter
|
|
ENST00000680162.2:c.1237G>T
|
ENSP00000506634.2:p.Glu413Ter
|
|
ENST00000680355.1:c.1019+9219G>T
|
ENSP00000506257.1:n.1019+9219G>T
|
|
ENST00000680557.1:c.603+34511G>T
|
ENSP00000505164.1:n.603+34511G>T
|
|
ENST00000680701.1:n.321G>T
|
|
|
ENST00000680768.1:c.1246G>T
|
ENSP00000506359.1:p.Glu416Ter
|
|
ENST00000680768.2:c.1303G>T
|
ENSP00000506359.2:p.Glu435Ter
|
|
ENST00000680961.1:c.*509G>T
|
ENSP00000506386.1:n.*509G>T
|
|
ENST00000681026.1:c.208G>T
|
ENSP00000506689.1:p.Glu70Ter
|
|
ENST00000681153.1:c.1303G>T
|
ENSP00000505124.1:p.Glu435Ter
|
|
ENST00000681989.1:n.1344G>T
|
|
|
ENST00000682207.1:n.666G>T
|
|
|
ENST00000682238.1:c.2843+9219G>T
|
ENSP00000508124.1:n.2843+9219G>T
|
|
ENST00000682322.1:c.1237G>T
|
ENSP00000507690.1:p.Glu413Ter
|
|
ENST00000682600.1:c.1303G>T
|
ENSP00000507640.1:p.Glu435Ter
|
|
ENST00000682769.1:n.1138G>T
|
|
|
ENST00000683503.1:n.2361G>T
|
|
|
ENST00000683509.1:n.2024G>T
|
|
|
ENST00000683675.1:n.1645G>T
|
|
|
ENST00000683709.1:n.2025G>T
|
|
|
ENST00000683957.1:n.3999G>T
|
|
|
ENST00000683995.1:n.691G>T
|
|
|
ENST00000684072.1:n.775G>T
|
|
|
ENST00000684130.1:c.3127G>T
|
ENSP00000508037.1:p.Glu1043Ter
|
|
ENST00000684342.1:n.1590G>T
|
|
|
ENST00000684350.1:n.2361G>T
|
|
|
XM_006724468.2:c.10546G>T
|
XP_006724531.1:p.Glu3516Ter
|
|
XM_006724469.2:c.10522G>T
|
XP_006724532.1:p.Glu3508Ter
|
|
XM_006724469.3:c.10522G>T
|
XP_006724532.1:p.Glu3508Ter
|
|
XM_006724470.2:c.10507G>T
|
XP_006724533.1:p.Glu3503Ter
|
|
XM_006724470.3:c.10507G>T
|
XP_006724533.1:p.Glu3503Ter
|
|
XM_006724471.2:c.10441G>T
|
XP_006724534.1:p.Glu3481Ter
|
|
XM_006724472.2:c.10417G>T
|
XP_006724535.1:p.Glu3473Ter
|
|
XM_006724473.2:c.10408G>T
|
XP_006724536.1:p.Glu3470Ter
|
|
XM_006724474.2:c.10223+9219G>T
|
XP_006724537.1:n.10223+9219G>T
|
|
XM_006724474.3:c.10223+9219G>T
|
XP_006724537.1:n.10223+9219G>T
|
|
XM_006724475.2:c.10223+9219G>T
|
XP_006724538.1:n.10223+9219G>T
|
|
XM_011545467.1:c.10423G>T
|
XP_011543769.1:p.Glu3475Ter
|
|
XM_017029328.1:c.10507G>T
|
XP_016884817.1:p.Glu3503Ter
|
|
XM_017029331.1:c.4720G>T
|
XP_016884820.1:p.Glu1574Ter
|
