|
ENST00000306312.8:c.2156T>G
MANE Select
|
ENSP00000304783.3:p.Leu719Arg
|
|
|
ENST00000306312.7:c.2156T>G
|
ENSP00000304783.3:p.Leu719Arg
|
|
|
ENST00000339444.10:c.2041+2330T>G
|
ENSP00000342396.6:n.2041+2330T>G
|
|
|
ENST00000354356.8:c.2162T>G
|
ENSP00000346325.5:p.Leu721Arg
|
|
|
ENST00000356767.8:c.972-21552T>G
|
ENSP00000349210.4:n.972-21552T>G
|
|
|
ENST00000393723.2:c.2066T>G
|
ENSP00000377324.1:p.Leu689Arg
|
|
|
ENST00000393727.5:c.2162T>G
|
ENSP00000377328.1:p.Leu721Arg
|
|
|
ENST00000393729.5:c.2045T>G
|
ENSP00000377330.1:p.Leu682Arg
|
|
|
ENST00000393730.5:c.2060T>G
|
ENSP00000377331.1:p.Leu687Arg
|
|
|
ENST00000393735.6:c.1514+14530T>G
|
ENSP00000377336.2:n.1514+14530T>G
|
|
|
ENST00000423416.5:c.*568T>G
|
ENSP00000389018.1:n.*568T>G
|
|
|
ENST00000432958.6:c.2060T>G
|
ENSP00000389733.2:p.Leu687Arg
|
|
|
ENST00000445809.5:c.*1139T>G
|
ENSP00000396833.1:n.*1139T>G
|
|
|
ENST00000454864.5:c.*460T>G
|
ENSP00000416502.1:n.*460T>G
|
|
|
ENST00000456463.5:c.*1357T>G
|
ENSP00000395568.1:n.*1357T>G
|
|
|
NM_001167962.1:c.2060T>G
|
NP_001161434.1:p.Leu687Arg
|
|
|
NM_198999.2:c.2156T>G
|
NP_945350.1:p.Leu719Arg
|
|
|
NM_206883.2:c.2041+2330T>G
|
NP_996766.1:n.2041+2330T>G
|
|
|
NM_206884.2:c.1514+14530T>G
|
NP_996767.1:n.1514+14530T>G
|
|
|
NM_206885.2:c.972-21552T>G
|
NP_996768.1:n.972-21552T>G
|
|
|
NR_120441.1:n.2172T>G
|
|
|
|
NR_120442.1:n.2068T>G
|
|
|
|
NR_120443.1:n.1986T>G
|
|
|
|
XM_011516170.1:c.2156T>G
|
XP_011514472.1:p.Leu719Arg
|
|
|
NM_001321787.1:c.1945+2330T>G
|
NP_001308716.1:n.1945+2330T>G
|
|
|
NR_135801.1:n.2174T>G
|
|
|
|
NR_135802.1:n.2137+2330T>G
|
|
|
|
XM_011516170.3:c.2156T>G
|
XP_011514472.1:p.Leu719Arg
|
|
|
XR_001744725.2:n.2348T>G
|
|
|
|
XR_001744726.1:n.3023+2330T>G
|
|
|
|
XR_001744727.2:n.2252T>G
|
|
|
|
NM_001321787.2:c.1945+2330T>G
|
NP_001308716.1:n.1945+2330T>G
|
|
|
NM_198999.3:c.2156T>G
MANE Select
|
NP_945350.1:p.Leu719Arg
|
|
|
NM_206883.3:c.2041+2330T>G
|
NP_996766.1:n.2041+2330T>G
|
|
|
NM_206884.3:c.1514+14530T>G
|
NP_996767.1:n.1514+14530T>G
|
|
|
NM_206885.3:c.972-21552T>G
|
NP_996768.1:n.972-21552T>G
|
|
|
NR_135802.2:n.2167+2330T>G
|
|
|
|
NM_001167962.2:c.2060T>G
|
NP_001161434.1:p.Leu687Arg
|
|
|
NR_135801.2:n.2204T>G
|
|
|
