|
ENST00000313771.10:n.1211C>G
|
|
|
|
ENST00000355740.8:c.*225C>G
|
ENSP00000347979.3:n.*225C>G
|
|
|
ENST00000357339.7:c.839C>G
|
ENSP00000349896.2:p.Ala280Gly
|
|
|
ENST00000371857.8:n.2447C>G
|
|
|
|
ENST00000460510.6:c.185C>G
|
ENSP00000512812.1:p.Ala62Gly
|
|
|
ENST00000466081.6:n.2551C>G
|
|
|
|
ENST00000477270.6:c.947C>G
|
ENSP00000512813.1:p.Ala316Gly
|
|
|
ENST00000479522.6:c.*331C>G
|
ENSP00000424113.1:n.*331C>G
|
|
|
ENST00000484444.6:c.*343C>G
|
ENSP00000420975.1:n.*343C>G
|
|
|
ENST00000488877.6:c.793C>G
|
ENSP00000425159.1:n.793C>G
|
|
|
ENST00000492756.7:c.*331C>G
|
ENSP00000422453.1:n.*331C>G
|
|
|
ENST00000494799.6:c.185C>G
|
ENSP00000512834.1:p.Ala62Gly
|
|
|
ENST00000562983.3:c.185C>G
|
ENSP00000512845.1:p.Ala62Gly
|
|
|
ENST00000612663.6:c.*304C>G
|
ENSP00000477997.3:n.*304C>G
|
|
|
ENST00000640140.2:n.1047C>G
|
|
|
|
ENST00000640250.2:n.401C>G
|
|
|
|
ENST00000640681.2:n.1006C>G
|
|
|
|
ENST00000696723.1:n.4535C>G
|
|
|
|
ENST00000696741.1:n.2540C>G
|
|
|
|
ENST00000696742.1:n.2267C>G
|
|
|
|
ENST00000696743.1:n.3670C>G
|
|
|
|
ENST00000696744.1:n.941C>G
|
|
|
|
ENST00000696767.1:n.1236C>G
|
|
|
|
ENST00000696768.1:c.*225C>G
|
ENSP00000512859.1:n.*225C>G
|
|
|
ENST00000696769.1:n.2591C>G
|
|
|
|
ENST00000696771.1:c.185C>G
|
ENSP00000512860.1:p.Ala62Gly
|
|
|
ENST00000696772.1:n.2505C>G
|
|
|
|
ENST00000696773.1:n.2244C>G
|
|
|
|
ENST00000696774.1:n.6012C>G
|
|
|
|
ENST00000696776.1:c.995C>G
|
ENSP00000512861.1:p.Ala332Gly
|
|
|
ENST00000696777.1:n.2310C>G
|
|
|
|
ENST00000696778.1:n.1338C>G
|
|
|
|
ENST00000696779.1:c.509C>G
|
ENSP00000512862.1:p.Ala170Gly
|
|
|
ENST00000696780.1:c.932C>G
|
ENSP00000512863.1:p.Ala311Gly
|
|
|
ENST00000696781.1:c.647C>G
|
ENSP00000512864.1:p.Ala216Gly
|
|
|
ENST00000696782.1:c.*304C>G
|
ENSP00000512865.1:n.*304C>G
|
|
|
ENST00000696783.1:n.2770C>G
|
|
|
|
ENST00000696992.1:n.2019C>G
|
|
|
|
ENST00000696995.1:n.4431C>G
|
|
|
|
ENST00000696996.1:n.2344C>G
|
|
|
|
ENST00000696997.1:c.*532C>G
|
ENSP00000513028.1:n.*532C>G
|
|
|
ENST00000696998.1:n.2156C>G
|
|
|
|
ENST00000696999.1:c.185C>G
|
ENSP00000513029.1:p.Ala62Gly
|
|
|
ENST00000697036.1:c.*318C>G
|
ENSP00000513060.1:n.*318C>G
|
|
|
ENST00000697037.1:n.937C>G
|
|
|
|
ENST00000697093.1:n.3138C>G
|
|
|
|
ENST00000697094.1:n.3485C>G
|
|
|
|
ENST00000697095.1:c.*2103C>G
|
ENSP00000513104.1:n.*2103C>G
|
|
|
ENST00000697096.1:n.2035C>G
|
|
|
|
ENST00000697097.1:c.185C>G
|
ENSP00000513105.1:p.Ala62Gly
|
|
|
ENST00000562983.2:n.1088C>G
|
|
|
|
ENST00000690268.1:c.983C>G
|
ENSP00000509810.1:p.Ala328Gly
|
|
|
ENST00000355740.7:c.*228C>G
|
ENSP00000347979.3:n.*228C>G
|
|
|
ENST00000612663.5:c.*304C>G
|
ENSP00000477997.3:n.*304C>G
|
|
|
ENST00000640140.1:n.1074C>G
|
|
|
|
ENST00000640250.1:n.401C>G
|
|
|
|
ENST00000640681.1:n.1023C>G
|
|
|
|
ENST00000652046.1:c.902C>G
MANE Select
|
ENSP00000498466.1:p.Ala301Gly
|
|
|
ENST00000352159.8:c.*219C>G
|
ENSP00000345601.4:n.*219C>G
|
|
|
ENST00000355279.2:c.877C>G
|
ENSP00000347426.2:n.877C>G
|
|
|
ENST00000355740.6:c.902C>G
|
ENSP00000347979.2:p.Ala301Gly
|
|
|
ENST00000357339.6:c.839C>G
|
ENSP00000349896.2:p.Ala280Gly
|
|
|
ENST00000479522.5:c.*331C>G
|
ENSP00000424113.1:n.*331C>G
|
|
|
ENST00000484444.5:c.*343C>G
|
ENSP00000420975.1:n.*343C>G
|
|
|
ENST00000488877.5:c.*343C>G
|
ENSP00000425159.1:n.*343C>G
|
|
|
ENST00000492756.5:c.730C>G
|
ENSP00000422453.1:n.730C>G
|
|
|
ENST00000494410.5:c.*260C>G
|
ENSP00000423755.1:n.*260C>G
|
|
|
ENST00000612663.4:c.*249C>G
|
ENSP00000477997.2:n.*249C>G
|
|
|
NM_000043.4:c.902C>G , LRG_134t1:c.902C>G
|
NP_000034.1:p.Ala301Gly
|
|
|
NM_152871.2:c.839C>G
|
NP_690610.1:p.Ala280Gly
|
|
|
NM_152872.2:c.*214C>G
|
NP_690611.1:n.*214C>G
|
|
|
NR_028033.2:n.1076C>G
|
|
|
|
NR_028034.2:n.938C>G
|
|
|
|
NR_028035.2:n.1001C>G
|
|
|
|
NR_028036.2:n.1139C>G
|
|
|
|
XM_006717819.2:c.983C>G
|
XP_006717882.1:p.Ala328Gly
|
|
|
XM_011539764.1:c.1064C>G
|
XP_011538066.1:p.Ala355Gly
|
|
|
XM_011539765.1:c.1001C>G
|
XP_011538067.1:p.Ala334Gly
|
|
|
XM_011539766.1:c.983C>G
|
XP_011538068.1:p.Ala328Gly
|
|
|
XM_011539767.1:c.947C>G
|
XP_011538069.1:p.Ala316Gly
|
|
|
XR_945732.1:n.970C>G
|
|
|
|
XR_945733.1:n.907C>G
|
|
|
|
NM_000043.5:c.902C>G
|
NP_000034.1:p.Ala301Gly
|
|
|
NM_001320619.1:c.*225C>G
|
NP_001307548.1:n.*225C>G
|
|
|
NM_152871.3:c.839C>G
|
NP_690610.1:p.Ala280Gly
|
|
|
NM_152872.3:c.*214C>G
|
NP_690611.1:n.*214C>G
|
|
|
NR_028033.3:n.1048C>G
|
|
|
|
NR_028034.3:n.910C>G
|
|
|
|
NR_028035.3:n.973C>G
|
|
|
|
NR_028036.3:n.1111C>G
|
|
|
|
NR_135313.1:n.1028C>G
|
|
|
|
NR_135314.1:n.1211C>G
|
|
|
|
NR_135315.1:n.964C>G
|
|
|
|
XM_006717819.3:c.983C>G
|
XP_006717882.1:p.Ala328Gly
|
|
|
XM_011539764.2:c.1064C>G
|
XP_011538066.1:p.Ala355Gly
|
|
|
XM_011539765.2:c.1001C>G
|
XP_011538067.1:p.Ala334Gly
|
|
|
XM_011539766.2:c.983C>G
|
XP_011538068.1:p.Ala328Gly
|
|
|
XM_011539767.3:c.947C>G
|
XP_011538069.1:p.Ala316Gly
|
|
|
XR_945732.3:n.970C>G
|
|
|
|
XR_945733.2:n.907C>G
|
|
|
|
NM_000043.6:c.902C>G
MANE Select
|
NP_000034.1:p.Ala301Gly
|
|
|
NM_001320619.2:c.*225C>G
|
NP_001307548.1:n.*225C>G
|
|
|
NM_152871.4:c.839C>G
|
NP_690610.1:p.Ala280Gly
|
|
|
NM_152872.4:c.*214C>G
|
NP_690611.1:n.*214C>G
|
|
|
NR_028033.4:n.809C>G
|
|
|
|
NR_028034.4:n.671C>G
|
|
|
|
NR_028035.4:n.734C>G
|
|
|
|
NR_028036.4:n.872C>G
|
|
|
|
NR_135313.2:n.789C>G
|
|
|
|
NR_135314.2:n.1068C>G
|
|
|
|
NR_135315.2:n.821C>G
|
|
|
