ENST00000478995.2:n.1677G>T
|
|
|
ENST00000488970.2:n.1675G>T
|
|
|
ENST00000695614.1:c.1517G>T
|
ENSP00000512053.1:p.Cys506Phe
|
|
ENST00000695615.1:c.1517G>T
|
ENSP00000512054.1:p.Cys506Phe
|
|
ENST00000695616.1:c.*1362G>T
|
ENSP00000512055.1:n.*1362G>T
|
|
ENST00000695617.1:c.1514G>T
|
ENSP00000512056.1:p.Cys505Phe
|
|
ENST00000695618.1:c.*1266G>T
|
ENSP00000512058.1:n.*1266G>T
|
|
ENST00000695619.1:c.*1227G>T
|
ENSP00000512059.1:n.*1227G>T
|
|
ENST00000695620.1:c.*1443G>T
|
ENSP00000512060.1:n.*1443G>T
|
|
ENST00000695621.1:c.1517G>T
|
ENSP00000512061.1:p.Cys506Phe
|
|
ENST00000695622.1:c.1454G>T
|
ENSP00000512062.1:p.Cys485Phe
|
|
ENST00000695623.1:c.1511G>T
|
ENSP00000512063.1:p.Cys504Phe
|
|
ENST00000695624.1:n.822G>T
|
|
|
ENST00000695625.1:c.1517G>T
|
ENSP00000512064.1:p.Cys506Phe
|
|
ENST00000695626.1:c.321+683G>T
|
ENSP00000512065.1:n.321+683G>T
|
|
ENST00000695627.1:c.530G>T
|
ENSP00000512066.1:p.Cys177Phe
|
|
ENST00000695628.1:c.190+1408G>T
|
ENSP00000512067.1:n.190+1408G>T
|
|
ENST00000695629.1:c.190+1408G>T
|
ENSP00000512068.1:n.190+1408G>T
|
|
ENST00000695630.1:c.358+683G>T
|
|
|
ENST00000695631.1:c.114+2209G>T
|
|
|
ENST00000695632.1:n.366+683G>T
|
|
|
ENST00000703407.1:c.1039-1407G>T
|
ENSP00000512057.1:n.1039-1407G>T
|
|
ENST00000308731.8:c.1517G>T
MANE Select
|
ENSP00000308176.8:p.Cys506Phe
|
|
ENST00000308731.7:c.1517G>T
|
ENSP00000308176.7:p.Cys506Phe
|
|
ENST00000372880.5:c.1039-1407G>T
|
ENSP00000361971.1:n.1039-1407G>T
|
|
ENST00000478995.1:n.189G>T
|
|
|
ENST00000618050.4:c.1517G>T
|
ENSP00000479125.1:p.Cys506Phe
|
|
ENST00000621635.4:c.1619G>T
|
ENSP00000483570.1:p.Cys540Phe
|
|
NM_000061.2:c.1517G>T , LRG_128t1:c.1517G>T
|
NP_000052.1:p.Cys506Phe
|
|
NM_001287344.1:c.1619G>T
|
NP_001274273.1:p.Cys540Phe
|
|
NM_001287345.1:c.1039-1407G>T
|
NP_001274274.1:n.1039-1407G>T
|
|
NM_000061.3:c.1517G>T
MANE Select
|
NP_000052.1:p.Cys506Phe
|
|
NM_001287344.2:c.1619G>T
|
NP_001274273.1:p.Cys540Phe
|
|
NM_001287345.2:c.1039-1407G>T
|
NP_001274274.1:n.1039-1407G>T
|
|