ENST00000525083.6:n.1123G>C
|
|
|
ENST00000532101.6:n.742G>C
|
|
|
ENST00000532125.2:c.637G>C
|
ENSP00000434178.2:p.Asp213His
|
|
ENST00000533839.6:c.86-459G>C
|
ENSP00000509952.1:n.86-459G>C
|
|
ENST00000534011.6:n.932G>C
|
|
|
ENST00000685484.1:c.640G>C
|
ENSP00000510622.1:p.Asp214His
|
|
ENST00000685601.1:c.640G>C
|
ENSP00000510603.1:p.Asp214His
|
|
ENST00000685765.1:c.640G>C
|
ENSP00000509991.1:p.Asp214His
|
|
ENST00000685844.1:c.*177G>C
|
ENSP00000509820.1:n.*177G>C
|
|
ENST00000685857.1:n.1379G>C
|
|
|
ENST00000686242.1:c.439G>C
|
ENSP00000508950.1:n.439G>C
|
|
ENST00000686888.1:c.*207G>C
|
ENSP00000509619.1:n.*207G>C
|
|
ENST00000687699.1:c.764G>C
|
ENSP00000508878.1:n.764G>C
|
|
ENST00000687786.1:n.2076G>C
|
|
|
ENST00000688100.1:n.1561G>C
|
|
|
ENST00000688588.1:c.640G>C
|
ENSP00000510802.1:p.Asp214His
|
|
ENST00000688927.1:n.2851G>C
|
|
|
ENST00000689283.1:c.*303G>C
|
ENSP00000509050.1:n.*303G>C
|
|
ENST00000689477.1:c.*533G>C
|
ENSP00000508945.1:n.*533G>C
|
|
ENST00000689765.1:c.*169-36G>C
|
ENSP00000509625.1:n.*169-36G>C
|
|
ENST00000690512.1:c.*491G>C
|
ENSP00000509793.1:n.*491G>C
|
|
ENST00000692039.1:c.*438G>C
|
ENSP00000508821.1:n.*438G>C
|
|
ENST00000692336.1:c.664G>C
|
ENSP00000508540.1:p.Asp222His
|
|
ENST00000693133.1:n.1120G>C
|
|
|
ENST00000263578.10:c.640G>C
MANE Select
|
ENSP00000263578.5:p.Asp214His
|
|
ENST00000263578.9:c.640G>C
|
ENSP00000263578.5:p.Asp214His
|
|
ENST00000524751.5:n.881G>C
|
|
|
ENST00000525083.5:n.360G>C
|
|
|
ENST00000525770.5:c.*272G>C
|
ENSP00000434739.1:n.*272G>C
|
|
ENST00000527004.5:c.542G>C
|
ENSP00000436374.1:p.Gly181Ala
|
|
ENST00000530642.1:n.1422G>C
|
|
|
ENST00000532101.5:n.863G>C
|
|
|
ENST00000532125.1:c.598G>C
|
ENSP00000434178.1:p.Asp200His
|
|
ENST00000533395.5:n.373G>C
|
|
|
ENST00000533839.5:n.238-459G>C
|
|
|
ENST00000534011.5:n.692G>C
|
|
|
ENST00000534315.5:n.952G>C
|
|
|
NM_017547.3:c.640G>C
|
NP_060017.1:p.Asp214His
|
|
NR_037647.1:n.586G>C
|
|
|
NR_037648.1:n.826G>C
|
|
|
XM_006718879.2:c.130G>C
|
XP_006718942.1:p.Asp44His
|
|
XM_006718880.2:c.7G>C
|
XP_006718943.1:p.Asp3His
|
|
XM_006718881.2:c.7G>C
|
XP_006718944.1:p.Asp3His
|
|
XM_011542895.1:c.130G>C
|
XP_011541197.1:p.Asp44His
|
|
XM_011542896.1:c.130G>C
|
XP_011541198.1:p.Asp44His
|
|
XM_006718879.3:c.130G>C
|
XP_006718942.1:p.Asp44His
|
|
XM_006718881.3:c.7G>C
|
XP_006718944.1:p.Asp3His
|
|
XM_011542895.2:c.130G>C
|
XP_011541197.1:p.Asp44His
|
|
XM_011542896.2:c.130G>C
|
XP_011541198.1:p.Asp44His
|
|
XM_017018000.2:c.640G>C
|
XP_016873489.1:p.Asp214His
|
|
XM_017018001.1:c.130G>C
|
XP_016873490.1:p.Asp44His
|
|
XM_017018002.1:c.130G>C
|
XP_016873491.1:p.Asp44His
|
|
XM_017018003.2:c.7G>C
|
XP_016873492.1:p.Asp3His
|
|
XM_017018004.1:c.7G>C
|
XP_016873493.1:p.Asp3His
|
|
XM_017018005.1:c.7G>C
|
XP_016873494.1:p.Asp3His
|
|
XM_017018006.2:c.7G>C
|
XP_016873495.1:p.Asp3His
|
|
NM_017547.4:c.640G>C
MANE Select
|
NP_060017.1:p.Asp214His
|
|
NR_037647.2:n.472G>C
|
|
|
NR_037648.2:n.817G>C
|
|
|