ENST00000247138.11:c.1163+5G>T
MANE Select
|
ENSP00000247138.5:n.1163+5G>T
|
|
ENST00000247138.10:c.1163+5G>T
|
ENSP00000247138.5:n.1163+5G>T
|
|
ENST00000376515.8:c.506G>T
|
ENSP00000365698.3:p.Ser169Ile
|
|
ENST00000376521.6:c.1168G>T
|
ENSP00000365704.1:p.Val390Leu
|
|
ENST00000376529.8:c.573+5G>T
|
ENSP00000365712.3:n.573+5G>T
|
|
ENST00000413561.7:c.730G>T
|
|
|
ENST00000445167.7:c.578G>T
|
ENSP00000402726.2:p.Ser193Ile
|
|
ENST00000452555.7:c.1252G>T
|
ENSP00000416002.2:p.Val418Leu
|
|
ENST00000616181.5:c.1207G>T
|
ENSP00000478617.1:p.Val403Leu
|
|
ENST00000635285.1:c.1168G>T
|
ENSP00000489484.1:p.Val390Leu
|
|
ENST00000635460.1:c.425-1276G>T
|
|
|
ENST00000635589.1:c.985G>T
|
ENSP00000489197.1:p.Val329Leu
|
|
ENST00000635628.1:c.*1062G>T
|
ENSP00000489613.1:n.*1062G>T
|
|
NM_001032289.2:c.578G>T
|
NP_001027460.1:p.Ser193Ile
|
|
NM_001042498.2:c.1168G>T
|
NP_001035963.1:p.Val390Leu
|
|
NM_001282647.1:c.573+5G>T
|
NP_001269576.1:n.573+5G>T
|
|
NM_001282648.1:c.506G>T
|
NP_001269577.1:p.Ser169Ile
|
|
NM_001282649.1:c.985G>T
|
NP_001269578.1:p.Val329Leu
|
|
NM_001282650.1:c.1207G>T
|
NP_001269579.1:p.Val403Leu
|
|
NM_001282651.1:c.1252G>T
|
NP_001269580.1:p.Val418Leu
|
|
NM_005660.2:c.1163+5G>T
|
NP_005651.1:n.1163+5G>T
|
|
NM_005660.3:c.1163+5G>T
MANE Select
|
NP_005651.1:n.1163+5G>T
|
|
NM_001032289.3:c.578G>T
|
NP_001027460.1:p.Ser193Ile
|
|
NM_001042498.3:c.1168G>T
|
NP_001035963.1:p.Val390Leu
|
|
NM_001282647.2:c.573+5G>T
|
NP_001269576.1:n.573+5G>T
|
|
NM_001282649.2:c.985G>T
|
NP_001269578.1:p.Val329Leu
|
|
NM_001282650.2:c.1207G>T
|
NP_001269579.1:p.Val403Leu
|
|
NM_001282651.2:c.1252G>T
|
NP_001269580.1:p.Val418Leu
|
|
NM_001282648.2:c.506G>T
|
NP_001269577.1:p.Ser169Ile
|
|