|
NM_004006.3:c.10519G>T
MANE Select
|
NP_003997.2:p.Glu3507Ter
|
|
ENST00000357033.9:c.10519G>T
MANE Select
|
ENSP00000354923.3:p.Glu3507Ter
|
|
NM_000109.3:c.10495G>T
|
NP_000100.2:p.Glu3499Ter
|
|
NM_000109.4:c.10495G>T
|
NP_000100.3:p.Glu3499Ter
|
|
NM_004006.2:c.10519G>T , LRG_199t1:c.10519G>T
|
NP_003997.1:p.Glu3507Ter
|
|
NM_004009.3:c.10507G>T
|
NP_004000.1:p.Glu3503Ter
|
|
NM_004010.3:c.10150G>T
|
NP_004001.1:p.Glu3384Ter
|
|
NM_004011.3:c.6496G>T
|
NP_004002.2:p.Glu2166Ter
|
|
NM_004011.4:c.6496G>T
|
NP_004002.3:p.Glu2166Ter
|
|
NM_004012.3:c.6487G>T
|
NP_004003.1:p.Glu2163Ter
|
|
NM_004012.4:c.6487G>T
|
NP_004003.2:p.Glu2163Ter
|
|
NM_004013.2:c.3139G>T
|
NP_004004.1:p.Glu1047Ter
|
|
NM_004013.3:c.3139G>T
|
NP_004004.2:p.Glu1047Ter
|
|
NM_004014.2:c.2332G>T
|
NP_004005.1:p.Glu778Ter
|
|
NM_004014.3:c.2332G>T
|
NP_004005.2:p.Glu778Ter
|
|
NM_004015.2:c.1315G>T
|
NP_004006.1:p.Glu439Ter
|
|
NM_004015.3:c.1315G>T
|
NP_004006.1:p.Glu439Ter
|
|
NM_004016.2:c.1315G>T
|
NP_004007.1:p.Glu439Ter
|
|
NM_004016.3:c.1315G>T
|
NP_004007.1:p.Glu439Ter
|
|
NM_004017.2:c.1276G>T
|
NP_004008.1:p.Glu426Ter
|
|
NM_004017.3:c.1276G>T
|
NP_004008.1:p.Glu426Ter
|
|
NM_004018.2:c.1276G>T
|
NP_004009.1:p.Glu426Ter
|
|
NM_004018.3:c.1276G>T
|
NP_004009.1:p.Glu426Ter
|
|
NM_004020.3:c.2843+9192G>T
|
NP_004011.2:n.2843+9192G>T
|
|
NM_004020.4:c.2843+9192G>T
|
NP_004011.3:n.2843+9192G>T
|
|
NM_004021.2:c.3139G>T
|
NP_004012.1:p.Glu1047Ter
|
|
NM_004021.3:c.3139G>T
|
NP_004012.2:p.Glu1047Ter
|
|
NM_004022.2:c.3100G>T
|
NP_004013.1:p.Glu1034Ter
|
|
NM_004022.3:c.3100G>T
|
NP_004013.2:p.Glu1034Ter
|
|
NM_004023.2:c.2843+9192G>T
|
NP_004014.1:n.2843+9192G>T
|
|
NM_004023.3:c.2843+9192G>T
|
NP_004014.2:n.2843+9192G>T
|
|
ENST00000343523.6:c.2332G>T
|
ENSP00000340057.3:p.Glu778Ter
|
|
ENST00000343523.7:c.2374G>T
|
ENSP00000340057.4:p.Glu792Ter
|
|
ENST00000357033.8:c.10519G>T
|
ENSP00000354923.3:p.Glu3507Ter
|
|
ENST00000358062.6:c.3568G>T
|
ENSP00000350765.2:p.Glu1190Ter
|
|
ENST00000358062.7:c.5326G>T
|
ENSP00000350765.3:p.Glu1776Ter
|
|
ENST00000359836.5:c.3100G>T
|
ENSP00000352894.1:p.Glu1034Ter
|
|
ENST00000361471.8:c.1276G>T
|
ENSP00000354464.4:p.Glu426Ter
|
|
ENST00000378677.6:c.10507G>T
|
ENSP00000367948.2:p.Glu3503Ter
|
|
ENST00000378680.6:c.1019+9192G>T
|
ENSP00000367951.2:n.1019+9192G>T
|
|
ENST00000378702.8:c.1315G>T
|
ENSP00000367974.4:p.Glu439Ter
|
|
ENST00000378707.7:c.3139G>T
|
ENSP00000367979.3:p.Glu1047Ter
|
|
ENST00000378723.7:c.1315G>T
|
ENSP00000367997.3:p.Glu439Ter
|
|
ENST00000474231.5:c.3139G>T
|
ENSP00000417123.1:p.Glu1047Ter
|
|
ENST00000481143.2:n.80G>T
|
|
|
ENST00000541735.5:c.2843+9192G>T
|
ENSP00000444119.1:n.2843+9192G>T
|
|
ENST00000619831.4:c.10504G>T
|
ENSP00000479270.1:p.Glu3502Ter
|
|
ENST00000619831.5:c.6487G>T
|
ENSP00000479270.2:p.Glu2163Ter
|
|
ENST00000620040.4:c.10516G>T
|
ENSP00000478150.1:p.Glu3506Ter
|
|
ENST00000620040.5:c.3100G>T
|
ENSP00000478150.2:p.Glu1034Ter
|
|
ENST00000679437.1:c.181G>T
|
ENSP00000506629.1:p.Glu61Ter
|
|
ENST00000679641.1:c.*225+9192G>T
|
ENSP00000506135.1:n.*225+9192G>T
|
|
ENST00000679706.1:c.180+9192G>T
|
|
|
ENST00000679850.1:n.5530G>T
|
|
|
ENST00000680162.1:c.1192G>T
|
ENSP00000506634.1:p.Glu398Ter
|
|
ENST00000680162.2:c.1210G>T
|
ENSP00000506634.2:p.Glu404Ter
|
|
ENST00000680355.1:c.1019+9192G>T
|
ENSP00000506257.1:n.1019+9192G>T
|
|
ENST00000680557.1:c.603+34484G>T
|
ENSP00000505164.1:n.603+34484G>T
|
|
ENST00000680701.1:n.294G>T
|
|
|
ENST00000680768.1:c.1219G>T
|
ENSP00000506359.1:p.Glu407Ter
|
|
ENST00000680768.2:c.1276G>T
|
ENSP00000506359.2:p.Glu426Ter
|
|
ENST00000680961.1:c.*482G>T
|
ENSP00000506386.1:n.*482G>T
|
|
ENST00000681026.1:c.181G>T
|
ENSP00000506689.1:p.Glu61Ter
|
|
ENST00000681153.1:c.1276G>T
|
ENSP00000505124.1:p.Glu426Ter
|
|
ENST00000681989.1:n.1317G>T
|
|
|
ENST00000682207.1:n.639G>T
|
|
|
ENST00000682238.1:c.2843+9192G>T
|
ENSP00000508124.1:n.2843+9192G>T
|
|
ENST00000682322.1:c.1210G>T
|
ENSP00000507690.1:p.Glu404Ter
|
|
ENST00000682600.1:c.1276G>T
|
ENSP00000507640.1:p.Glu426Ter
|
|
ENST00000682769.1:n.1111G>T
|
|
|
ENST00000683503.1:n.2334G>T
|
|
|
ENST00000683509.1:n.1997G>T
|
|
|
ENST00000683675.1:n.1618G>T
|
|
|
ENST00000683709.1:n.1998G>T
|
|
|
ENST00000683957.1:n.3972G>T
|
|
|
ENST00000683995.1:n.664G>T
|
|
|
ENST00000684072.1:n.748G>T
|
|
|
ENST00000684130.1:c.3100G>T
|
ENSP00000508037.1:p.Glu1034Ter
|
|
ENST00000684342.1:n.1563G>T
|
|
|
ENST00000684350.1:n.2334G>T
|
|
|
XM_006724468.2:c.10519G>T
|
XP_006724531.1:p.Glu3507Ter
|
|
XM_006724469.2:c.10495G>T
|
XP_006724532.1:p.Glu3499Ter
|
|
XM_006724469.3:c.10495G>T
|
XP_006724532.1:p.Glu3499Ter
|
|
XM_006724470.2:c.10480G>T
|
XP_006724533.1:p.Glu3494Ter
|
|
XM_006724470.3:c.10480G>T
|
XP_006724533.1:p.Glu3494Ter
|
|
XM_006724471.2:c.10414G>T
|
XP_006724534.1:p.Glu3472Ter
|
|
XM_006724472.2:c.10390G>T
|
XP_006724535.1:p.Glu3464Ter
|
|
XM_006724473.2:c.10381G>T
|
XP_006724536.1:p.Glu3461Ter
|
|
XM_006724474.2:c.10223+9192G>T
|
XP_006724537.1:n.10223+9192G>T
|
|
XM_006724474.3:c.10223+9192G>T
|
XP_006724537.1:n.10223+9192G>T
|
|
XM_006724475.2:c.10223+9192G>T
|
XP_006724538.1:n.10223+9192G>T
|
|
XM_011545467.1:c.10396G>T
|
XP_011543769.1:p.Glu3466Ter
|
|
XM_017029328.1:c.10480G>T
|
XP_016884817.1:p.Glu3494Ter
|
|
XM_017029331.1:c.4693G>T
|
XP_016884820.1:p.Glu1565Ter
|
