|
ENST00000413740.2:c.497T>G
|
ENSP00000416476.2:p.Leu166Ter
|
|
|
ENST00000429117.6:c.203T>G
|
ENSP00000407019.2:p.Leu68Ter
|
|
|
ENST00000450420.6:c.497T>G
|
ENSP00000393006.2:p.Leu166Ter
|
|
|
ENST00000456676.7:c.497T>G
|
ENSP00000416687.3:p.Leu166Ter
|
|
|
ENST00000458009.6:c.497T>G
|
ENSP00000411066.2:p.Leu166Ter
|
|
|
ENST00000492474.6:c.-227T>G
|
ENSP00000518393.1:n.-227T>G
|
|
|
ENST00000616768.6:c.497T>G
|
ENSP00000480669.3:p.Leu166Ter
|
|
|
ENST00000673673.2:c.497T>G
|
ENSP00000500979.2:p.Leu166Ter
|
|
|
ENST00000231790.8:c.497T>G
MANE Select
|
ENSP00000231790.3:p.Leu166Ter
|
|
|
ENST00000413212.2:c.-227T>G
|
ENSP00000400844.2:n.-227T>G
|
|
|
ENST00000432299.6:c.*577T>G
|
ENSP00000416783.1:n.*577T>G
|
|
|
ENST00000441265.6:c.-227T>G
|
ENSP00000398392.2:n.-227T>G
|
|
|
ENST00000442249.6:n.512T>G
|
|
|
|
ENST00000447829.6:c.134T>G
|
ENSP00000399329.2:p.Leu45Ter
|
|
|
ENST00000539477.6:c.-179+1794T>G
|
ENSP00000443665.1:n.-179+1794T>G
|
|
|
ENST00000673673.1:c.450T>G
|
|
|
|
ENST00000673713.1:n.528T>G
|
|
|
|
ENST00000673715.1:c.497T>G
|
ENSP00000501301.1:p.Leu166Ter
|
|
|
ENST00000673897.1:c.*289T>G
|
ENSP00000501109.1:n.*289T>G
|
|
|
ENST00000673899.1:c.497T>G
|
ENSP00000501030.1:p.Leu166Ter
|
|
|
ENST00000673947.1:c.*637T>G
|
ENSP00000501304.1:n.*637T>G
|
|
|
ENST00000673972.1:c.*375T>G
|
ENSP00000501281.1:n.*375T>G
|
|
|
ENST00000673990.1:n.482T>G
|
|
|
|
ENST00000674019.1:c.-227T>G
|
ENSP00000501081.1:n.-227T>G
|
|
|
ENST00000674107.1:n.439T>G
|
|
|
|
ENST00000674111.1:c.497T>G
|
ENSP00000501162.1:p.Leu166Ter
|
|
|
ENST00000231790.6:c.497T>G
|
ENSP00000231790.2:p.Leu166Ter
|
|
|
ENST00000429117.5:c.203T>G
|
ENSP00000407019.1:p.Leu68Ter
|
|
|
ENST00000432299.5:c.*577T>G
|
ENSP00000416783.1:n.*577T>G
|
|
|
ENST00000435176.5:c.203T>G
|
ENSP00000402564.1:p.Leu68Ter
|
|
|
ENST00000441265.5:c.-179+1794T>G
|
ENSP00000398392.1:n.-179+1794T>G
|
|
|
ENST00000442249.5:c.*289T>G
|
ENSP00000387511.1:n.*289T>G
|
|
|
ENST00000454028.5:c.*370T>G
|
ENSP00000392649.1:n.*370T>G
|
|
|
ENST00000455445.6:c.-227T>G
|
ENSP00000398272.2:n.-227T>G
|
|
|
ENST00000456676.6:c.472T>G
|
|
|
|
ENST00000457004.5:c.*276T>G
|
ENSP00000407773.1:n.*276T>G
|
|
|
ENST00000458205.6:c.-227T>G
|
ENSP00000402667.2:n.-227T>G
|
|
|
ENST00000466900.5:n.530T>G
|
|
|
|
ENST00000485889.1:n.501T>G
|
|
|
|
ENST00000492474.5:n.520T>G
|
|
|
|
ENST00000536378.5:c.-227T>G
|
ENSP00000444286.2:n.-227T>G
|
|
|
ENST00000539477.5:c.-179+1794T>G
|
ENSP00000443665.1:n.-179+1794T>G
|
|
|
NM_000249.3:c.497T>G , LRG_216t1:c.497T>G
|
NP_000240.1:p.Leu166Ter
|
|
|
NM_001167617.1:c.203T>G
|
NP_001161089.1:p.Leu68Ter
|
|
|
NM_001167618.1:c.-227T>G
|
NP_001161090.1:n.-227T>G
|
|
|
NM_001167619.1:c.-179+1794T>G
|
NP_001161091.1:n.-179+1794T>G
|
|
|
NM_001258271.1:c.497T>G
|
NP_001245200.1:p.Leu166Ter
|
|
|
NM_001258273.1:c.-227T>G
|
NP_001245202.1:n.-227T>G
|
|
|
NM_001258274.1:c.-227T>G
|
NP_001245203.1:n.-227T>G
|
|
|
XM_005265161.1:c.497T>G
|
XP_005265218.1:p.Leu166Ter
|
|
|
XM_005265163.1:c.-227T>G
|
XP_005265220.1:n.-227T>G
|
|
|
XM_005265164.1:c.-227T>G
|
XP_005265221.1:n.-227T>G
|
|
|
XM_005265166.1:c.-433T>G
|
XP_005265223.1:n.-433T>G
|
|
|
XM_011533727.1:c.-330T>G
|
XP_011532029.1:n.-330T>G
|
|
|
NM_001167617.2:c.203T>G
|
NP_001161089.1:p.Leu68Ter
|
|
|
NM_001167618.2:c.-227T>G
|
NP_001161090.1:n.-227T>G
|
|
|
NM_001167619.2:c.-179+1794T>G
|
NP_001161091.1:n.-179+1794T>G
|
|
|
NM_001258274.2:c.-227T>G
|
NP_001245203.1:n.-227T>G
|
|
|
NM_001354615.1:c.-179+1794T>G
|
NP_001341544.1:n.-179+1794T>G
|
|
|
NM_001354616.1:c.-179+1794T>G
|
NP_001341545.1:n.-179+1794T>G
|
|
|
NM_001354617.1:c.-227T>G
|
NP_001341546.1:n.-227T>G
|
|
|
NM_001354618.1:c.-227T>G
|
NP_001341547.1:n.-227T>G
|
|
|
NM_001354619.1:c.-227T>G
|
NP_001341548.1:n.-227T>G
|
|
|
NM_001354620.1:c.203T>G
|
NP_001341549.1:p.Leu68Ter
|
|
|
NM_001354621.1:c.-320T>G
|
NP_001341550.1:n.-320T>G
|
|
|
NM_001354622.1:c.-433T>G
|
NP_001341551.1:n.-433T>G
|
|
|
NM_001354623.1:c.-433T>G
|
NP_001341552.1:n.-433T>G
|
|
|
NM_001354624.1:c.-330T>G
|
NP_001341553.1:n.-330T>G
|
|
|
NM_001354625.1:c.-282+1794T>G
|
NP_001341554.1:n.-282+1794T>G
|
|
|
NM_001354626.1:c.-330T>G
|
NP_001341555.1:n.-330T>G
|
|
|
NM_001354627.1:c.-330T>G
|
NP_001341556.1:n.-330T>G
|
|
|
NM_001354628.1:c.497T>G
|
NP_001341557.1:p.Leu166Ter
|
|
|
NM_001354629.1:c.398T>G
|
NP_001341558.1:p.Leu133Ter
|
|
|
NM_001354630.1:c.497T>G
|
NP_001341559.1:p.Leu166Ter
|
|
|
XM_005265161.2:c.497T>G
|
XP_005265218.1:p.Leu166Ter
|
|
|
XM_017006450.2:c.-320T>G
|
XP_016861939.1:n.-320T>G
|
|
|
NM_000249.4:c.497T>G
MANE Select
|
NP_000240.1:p.Leu166Ter
|
|
|
NM_001167617.3:c.203T>G
|
NP_001161089.1:p.Leu68Ter
|
|
|
NM_001167618.3:c.-227T>G
|
NP_001161090.1:n.-227T>G
|
|
|
NM_001167619.3:c.-179+1794T>G
|
NP_001161091.1:n.-179+1794T>G
|
|
|
NM_001258271.2:c.497T>G
|
NP_001245200.1:p.Leu166Ter
|
|
|
NM_001258273.2:c.-227T>G
|
NP_001245202.1:n.-227T>G
|
|
|
NM_001258274.3:c.-227T>G
|
NP_001245203.1:n.-227T>G
|
|
|
NM_001354615.2:c.-179+1794T>G
|
NP_001341544.1:n.-179+1794T>G
|
|
|
NM_001354616.2:c.-179+1794T>G
|
NP_001341545.1:n.-179+1794T>G
|
|
|
NM_001354617.2:c.-227T>G
|
NP_001341546.1:n.-227T>G
|
|
|
NM_001354618.2:c.-227T>G
|
NP_001341547.1:n.-227T>G
|
|
|
NM_001354619.2:c.-227T>G
|
NP_001341548.1:n.-227T>G
|
|
|
NM_001354620.2:c.203T>G
|
NP_001341549.1:p.Leu68Ter
|
|
|
NM_001354621.2:c.-320T>G
|
NP_001341550.1:n.-320T>G
|
|
|
NM_001354622.2:c.-433T>G
|
NP_001341551.1:n.-433T>G
|
|
|
NM_001354623.2:c.-433T>G
|
NP_001341552.1:n.-433T>G
|
|
|
NM_001354624.2:c.-330T>G
|
NP_001341553.1:n.-330T>G
|
|
|
NM_001354625.2:c.-282+1794T>G
|
NP_001341554.1:n.-282+1794T>G
|
|
|
NM_001354626.2:c.-330T>G
|
NP_001341555.1:n.-330T>G
|
|
|
NM_001354627.2:c.-330T>G
|
NP_001341556.1:n.-330T>G
|
|
|
NM_001354628.2:c.497T>G
|
NP_001341557.1:p.Leu166Ter
|
|
|
NM_001354629.2:c.398T>G
|
NP_001341558.1:p.Leu133Ter
|
|
|
NM_001354630.2:c.497T>G
|
NP_001341559.1:p.Leu166Ter
|
|
