|
NM_000548.5:c.5047G>C
MANE Select
|
NP_000539.2:p.Val1683Leu
|
|
ENST00000219476.9:c.5047G>C
MANE Select
|
ENSP00000219476.3:p.Val1683Leu
|
|
NM_000548.3:c.5047G>C , LRG_487t1:c.5047G>C
|
NP_000539.2:p.Val1683Leu
|
|
NM_000548.4:c.5047G>C
|
NP_000539.2:p.Val1683Leu
|
|
NM_001077183.1:c.4846G>C
|
NP_001070651.1:p.Val1616Leu
|
|
NM_001077183.2:c.4846G>C
|
NP_001070651.1:p.Val1616Leu
|
|
NM_001077183.3:c.4846G>C
|
NP_001070651.1:p.Val1616Leu
|
|
NM_001114382.1:c.4978G>C
|
NP_001107854.1:p.Val1660Leu
|
|
NM_001114382.2:c.4978G>C
|
NP_001107854.1:p.Val1660Leu
|
|
NM_001114382.3:c.4978G>C
|
NP_001107854.1:p.Val1660Leu
|
|
NM_001318827.1:c.4738G>C
|
NP_001305756.1:p.Val1580Leu
|
|
NM_001318827.2:c.4738G>C
|
NP_001305756.1:p.Val1580Leu
|
|
NM_001318829.1:c.4702G>C
|
NP_001305758.1:p.Val1568Leu
|
|
NM_001318829.2:c.4702G>C
|
NP_001305758.1:p.Val1568Leu
|
|
NM_001318831.1:c.4315G>C
|
NP_001305760.1:p.Val1439Leu
|
|
NM_001318831.2:c.4315G>C
|
NP_001305760.1:p.Val1439Leu
|
|
NM_001318832.1:c.4879G>C
|
NP_001305761.1:p.Val1627Leu
|
|
NM_001318832.2:c.4879G>C
|
NP_001305761.1:p.Val1627Leu
|
|
NM_001363528.1:c.4849G>C
|
NP_001350457.1:p.Val1617Leu
|
|
NM_001363528.2:c.4849G>C
|
NP_001350457.1:p.Val1617Leu
|
|
NM_001370404.1:c.4915G>C
|
NP_001357333.1:p.Val1639Leu
|
|
NM_001370405.1:c.4918G>C
|
NP_001357334.1:p.Val1640Leu
|
|
NM_021055.2:c.4918G>C
|
NP_066399.2:p.Val1640Leu
|
|
NM_021055.3:c.4918G>C
|
NP_066399.2:p.Val1640Leu
|
|
ENST00000219476.7:c.5047G>C
|
ENSP00000219476.3:p.Val1683Leu
|
|
ENST00000350773.8:c.4978G>C
|
ENSP00000344383.4:p.Val1660Leu
|
|
ENST00000350773.9:c.4978G>C
|
ENSP00000344383.4:p.Val1660Leu
|
|
ENST00000382538.10:c.4702G>C
|
ENSP00000371978.6:p.Val1568Leu
|
|
ENST00000401874.6:c.4846G>C
|
ENSP00000384468.2:p.Val1616Leu
|
|
ENST00000401874.7:c.4846G>C
|
ENSP00000384468.2:p.Val1616Leu
|
|
ENST00000439117.6:c.*4214G>C
|
ENSP00000406980.2:n.*4214G>C
|
|
ENST00000439673.6:c.4738G>C
|
ENSP00000399232.2:p.Val1580Leu
|
|
ENST00000497886.5:n.2770G>C
|
|
|
ENST00000568454.5:c.4879G>C
|
ENSP00000454487.1:p.Val1627Leu
|
|
ENST00000568454.6:c.4879G>C
|
ENSP00000454487.1:p.Val1627Leu
|
|
ENST00000568566.6:c.*3396G>C
|
ENSP00000455997.2:n.*3396G>C
|
|
ENST00000569110.1:c.1229G>C
|
|
|
ENST00000569110.2:c.1270G>C
|
|
|
ENST00000569930.1:n.2162G>C
|
|
|
ENST00000569930.2:n.2929G>C
|
|
|
ENST00000642206.2:c.4894G>C
|
ENSP00000495146.2:p.Val1632Leu
|
|
ENST00000642365.1:c.3701G>C
|
|
|
ENST00000642365.2:c.5044G>C
|
ENSP00000495459.2:p.Val1682Leu
|
|
ENST00000642561.1:c.4918G>C
|
ENSP00000495099.1:p.Val1640Leu
|
|
ENST00000642791.1:n.644G>C
|
|
|
ENST00000642797.1:c.4849G>C
|
ENSP00000493846.1:p.Val1617Leu
|
|
ENST00000642936.1:c.4915G>C
|
ENSP00000494514.1:p.Val1639Leu
|
|
ENST00000643088.1:c.4840G>C
|
ENSP00000494747.1:p.Val1614Leu
|
|
ENST00000643177.1:n.1061G>C
|
|
|
ENST00000643426.1:n.2695G>C
|
|
|
ENST00000643946.1:c.4972G>C
|
ENSP00000495927.1:p.Val1658Leu
|
|
ENST00000644043.1:c.4918G>C
|
ENSP00000496262.1:p.Val1640Leu
|
|
ENST00000644278.1:n.529G>C
|
|
|
ENST00000644329.1:c.4846G>C
|
ENSP00000496611.1:p.Val1616Leu
|
|
ENST00000644335.1:c.4843G>C
|
ENSP00000496317.1:p.Val1615Leu
|
|
ENST00000644399.1:c.4968G>C
|
|
|
ENST00000644417.2:c.*5560G>C
|
ENSP00000493912.2:n.*5560G>C
|
|
ENST00000645024.1:n.3131G>C
|
|
|
ENST00000646388.1:c.5041G>C
|
ENSP00000495921.1:p.Val1681Leu
|
|
ENST00000646464.2:c.*7796G>C
|
ENSP00000496610.2:n.*7796G>C
|
|
ENST00000646634.1:n.3862G>C
|
|
|
ENST00000646674.1:n.2299G>C
|
|
|
ENST00000647042.1:n.2270G>C
|
|
|
ENST00000647180.1:n.2160G>C
|
|
|
XM_005255529.3:c.4918G>C
|
XP_005255586.2:p.Val1640Leu
|
|
XM_005255531.3:c.4849G>C
|
XP_005255588.2:p.Val1617Leu
|
|
XM_005255531.4:c.4849G>C
|
XP_005255588.2:p.Val1617Leu
|
|
XM_011522636.1:c.5101G>C
|
XP_011520938.1:p.Val1701Leu
|
|
XM_011522636.2:c.5101G>C
|
XP_011520938.1:p.Val1701Leu
|
|
XM_011522637.1:c.5098G>C
|
XP_011520939.1:p.Val1700Leu
|
|
XM_011522637.2:c.5098G>C
|
XP_011520939.1:p.Val1700Leu
|
|
XM_011522638.1:c.4990G>C
|
XP_011520940.1:p.Val1664Leu
|
|
XM_011522638.2:c.5263G>C
|
XP_011520940.2:p.Val1755Leu
|
|
XM_011522639.1:c.4972G>C
|
XP_011520941.1:p.Val1658Leu
|
|
XM_011522639.2:c.4972G>C
|
XP_011520941.1:p.Val1658Leu
|
|
XM_011522640.1:c.4969G>C
|
XP_011520942.1:p.Val1657Leu
|
|
XM_011522640.2:c.4969G>C
|
XP_011520942.1:p.Val1657Leu
|
|
XM_011522641.1:c.4738G>C
|
XP_011520943.1:p.Val1580Leu
|
|
XM_017023615.1:c.5044G>C
|
XP_016879104.1:p.Val1682Leu
|
|
XM_017023616.1:c.4915G>C
|
XP_016879105.1:p.Val1639Leu
|
|
XM_017023617.1:c.5011G>C
|
XP_016879106.1:p.Val1671Leu
|
|
XM_017023618.1:c.3757G>C
|
XP_016879107.1:p.Val1253Leu
|
|
XM_024450413.1:c.4846G>C
|
XP_024306181.1:p.Val1616Leu
|
