ENST00000556892.6:c.172A>T
|
ENSP00000452206.2:p.Ile58Phe
|
|
ENST00000556979.6:c.*844A>T
|
ENSP00000452378.1:n.*844A>T
|
|
ENST00000358664.9:c.391A>T
MANE Select
|
ENSP00000351490.4:p.Ile131Phe
|
|
ENST00000651648.1:c.145-6199A>T
|
ENSP00000498863.1:n.145-6199A>T
|
|
ENST00000284165.10:c.*1235A>T
|
ENSP00000284165.6:n.*1235A>T
|
|
ENST00000341653.6:c.171+17140A>T
|
ENSP00000342482.2:n.171+17140A>T
|
|
ENST00000358402.8:c.364A>T
|
ENSP00000351175.4:p.Ile122Phe
|
|
ENST00000358664.8:c.391A>T
|
ENSP00000351490.4:p.Ile131Phe
|
|
ENST00000394606.6:c.*164A>T
|
ENSP00000378104.2:n.*164A>T
|
|
ENST00000553928.5:c.*180A>T
|
ENSP00000451907.1:n.*180A>T
|
|
ENST00000555419.5:c.283A>T
|
ENSP00000452405.1:p.Ile95Phe
|
|
ENST00000555932.5:c.132A>T
|
ENSP00000450763.1:p.Pro44=
|
|
ENST00000557277.5:c.202A>T
|
ENSP00000450955.1:p.Ile68Phe
|
|
ENST00000618858.4:c.*180A>T
|
ENSP00000480127.1:n.*180A>T
|
|
NM_001271069.1:c.144+17140A>T
|
NP_001257998.1:n.144+17140A>T
|
|
NM_002382.4:c.391A>T
|
NP_002373.3:p.Ile131Phe
|
|
NM_145112.2:c.364A>T
|
NP_660087.1:p.Ile122Phe
|
|
NM_145113.2:c.*180A>T
|
NP_660088.1:n.*180A>T
|
|
NM_197957.3:c.171+17140A>T
|
NP_932061.1:n.171+17140A>T
|
|
NR_073137.1:n.515A>T
|
|
|
XR_429315.2:n.678A>T
|
|
|
NM_001320415.1:c.202A>T
|
NP_001307344.1:p.Ile68Phe
|
|
XM_017021312.2:c.202A>T
|
XP_016876801.1:p.Ile68Phe
|
|
XM_017021313.1:c.202A>T
|
XP_016876802.1:p.Ile68Phe
|
|
XR_001750326.2:n.736A>T
|
|
|
XR_001750327.2:n.655A>T
|
|
|
XR_002957553.1:n.1169A>T
|
|
|
XR_943450.3:n.759A>T
|
|
|
XR_943451.3:n.775A>T
|
|
|
XR_943452.3:n.720A>T
|
|
|
NM_001320415.2:c.202A>T
|
NP_001307344.1:p.Ile68Phe
|
|
NM_002382.5:c.391A>T
MANE Select
|
NP_002373.3:p.Ile131Phe
|
|
NM_145112.3:c.364A>T
|
NP_660087.1:p.Ile122Phe
|
|
NM_145113.3:c.*180A>T
|
NP_660088.1:n.*180A>T
|
|
NM_001271069.2:c.144+17140A>T
|
NP_001257998.1:n.144+17140A>T
|
|
NM_197957.4:c.171+17140A>T
|
NP_932061.1:n.171+17140A>T
|
|