ENST00000553863.6:c.136G>T
|
ENSP00000508202.1:p.Gly46Cys
|
|
ENST00000556394.2:c.358-1662G>T
|
ENSP00000451967.2:n.358-1662G>T
|
|
ENST00000556880.6:n.707G>T
|
|
|
ENST00000557289.2:c.27G>T
|
|
|
ENST00000682247.1:c.683G>T
|
ENSP00000507213.1:p.Trp228Leu
|
|
ENST00000682382.1:c.496-2452G>T
|
|
|
ENST00000682395.1:n.412G>T
|
|
|
ENST00000682459.1:n.347G>T
|
|
|
ENST00000682467.1:c.683G>T
|
ENSP00000508062.1:p.Trp228Leu
|
|
ENST00000682795.1:c.683G>T
|
ENSP00000507574.1:p.Trp228Leu
|
|
ENST00000682895.1:n.399G>T
|
|
|
ENST00000682955.1:n.212-2452G>T
|
|
|
ENST00000683167.1:c.27G>T
|
|
|
ENST00000683188.1:c.343-1662G>T
|
|
|
ENST00000683300.1:c.109+3469G>T
|
ENSP00000507630.1:n.109+3469G>T
|
|
ENST00000683328.1:c.109+3469G>T
|
ENSP00000508096.1:n.109+3469G>T
|
|
ENST00000683380.1:n.347G>T
|
|
|
ENST00000683398.1:c.27G>T
|
|
|
ENST00000683551.1:c.109+1612G>T
|
|
|
ENST00000683828.1:c.525+1612G>T
|
|
|
ENST00000684259.1:n.534G>T
|
|
|
ENST00000684549.1:n.368-1662G>T
|
|
|
ENST00000684554.1:c.27G>T
|
|
|
ENST00000261534.9:c.683G>T
MANE Select
|
ENSP00000261534.4:p.Trp228Leu
|
|
ENST00000261534.8:c.683G>T
|
ENSP00000261534.4:p.Trp228Leu
|
|
ENST00000452340.7:n.706G>T
|
|
|
ENST00000553863.5:n.347G>T
|
|
|
ENST00000554948.1:c.410G>T
|
ENSP00000452060.1:p.Trp137Leu
|
|
ENST00000555675.5:n.399G>T
|
|
|
ENST00000556326.5:c.*349G>T
|
ENSP00000450630.1:n.*349G>T
|
|
ENST00000557289.1:c.56-1662G>T
|
ENSP00000451115.1:n.56-1662G>T
|
|
NM_013382.5:c.683G>T , LRG_844t1:c.683G>T
|
NP_037514.2:p.Trp228Leu
|
|
XM_011536675.1:c.683G>T
|
XP_011534977.1:p.Trp228Leu
|
|
XM_011536676.1:c.350G>T
|
XP_011534978.1:p.Trp117Leu
|
|
XM_011536677.1:c.547+3469G>T
|
XP_011534979.1:n.547+3469G>T
|
|
XM_011536678.1:c.683G>T
|
XP_011534980.1:p.Trp228Leu
|
|
XM_011536679.1:c.-90-1662G>T
|
XP_011534981.1:n.-90-1662G>T
|
|
XM_011536680.1:c.683G>T
|
XP_011534982.1:p.Trp228Leu
|
|
XR_943416.1:n.886G>T
|
|
|
XM_011536675.2:c.683G>T
|
XP_011534977.1:p.Trp228Leu
|
|
XM_011536676.2:c.350G>T
|
XP_011534978.1:p.Trp117Leu
|
|
XM_011536677.3:c.547+3469G>T
|
XP_011534979.1:n.547+3469G>T
|
|
XR_001750279.1:n.883G>T
|
|
|
XR_001750282.1:n.887G>T
|
|
|
XR_943416.3:n.884G>T
|
|
|
NM_013382.6:c.683G>T
|
NP_037514.2:p.Trp228Leu
|
|
NM_013382.7:c.683G>T
MANE Select
|
NP_037514.2:p.Trp228Leu
|
|