Linked Data
dbSNP Id:
rs1148247
gnomAD v2:
10-35496946-G-A
gnomAD v3:
10-35208018-G-A
gnomAD v4:
10-35208018-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.35208018G>A , CM000672.2:g.35208018G>A | GRCh38 |
| NC_000010.10:g.35496946G>A , CM000672.1:g.35496946G>A | GRCh37 |
| NC_000010.9:g.35536952G>A | NCBI36 |
| NG_029065.1:g.86146G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395887.8:c.701+967G>A | ENSP00000379225.3:n.701+967G>A | |
| ENST00000487132.6:c.518+967G>A | ENSP00000418798.2:n.518+967G>A | |
| ENST00000685392.1:c.755+967G>A MANE Select | ENSP00000509489.1:n.755+967G>A | |
| ENST00000686585.1:c.755+967G>A | ENSP00000510546.1:n.755+967G>A | |
| ENST00000337656.8:c.755+967G>A | ENSP00000337138.4:n.755+967G>A | |
| ENST00000342105.7:c.590+967G>A | ENSP00000341875.3:n.590+967G>A | |
| ENST00000344351.5:c.143+967G>A | ENSP00000344365.5:n.143+967G>A | |
| ENST00000345491.7:c.755+967G>A | ENSP00000265372.5:n.755+967G>A | |
| ENST00000348787.6:c.518+967G>A | ENSP00000345384.2:n.518+967G>A | |
| ENST00000354759.7:c.602+967G>A | ENSP00000346804.3:n.602+967G>A | |
| ENST00000356917.9:c.182+967G>A | ENSP00000349387.5:n.182+967G>A | |
| ENST00000361599.8:c.665+967G>A | ENSP00000354593.4:n.665+967G>A | |
| ENST00000374721.7:c.665+967G>A | ENSP00000363853.3:n.665+967G>A | |
| ENST00000374728.7:c.518+967G>A | ENSP00000363860.3:n.518+967G>A | |
| ENST00000374734.7:c.566+967G>A | ENSP00000363866.3:n.566+967G>A | |
| ENST00000395887.7:c.701+967G>A | ENSP00000379225.3:n.701+967G>A | |
| ENST00000429130.7:c.890+967G>A | ENSP00000393538.2:n.890+967G>A | |
| ENST00000439705.5:c.602+967G>A | ENSP00000409220.2:n.602+967G>A | |
| ENST00000460270.5:c.143+967G>A | ENSP00000420437.1:n.143+967G>A | |
| ENST00000461968.5:n.644+967G>A | ||
| ENST00000463314.5:c.269+967G>A | ENSP00000418336.1:n.269+967G>A | |
| ENST00000463960.5:c.434+967G>A | ENSP00000419684.2:n.434+967G>A | |
| ENST00000464475.1:c.248+967G>A | ||
| ENST00000468236.5:c.230+967G>A | ENSP00000419810.1:n.230+967G>A | |
| ENST00000469517.1:n.298+967G>A | ||
| ENST00000473940.5:c.218+967G>A | ENSP00000420681.1:n.218+967G>A | |
| ENST00000474362.5:c.143+967G>A | ENSP00000419018.1:n.143+967G>A | |
| ENST00000474931.5:c.194+967G>A | ENSP00000417562.1:n.194+967G>A | |
| ENST00000479070.5:c.791+967G>A | ENSP00000420511.1:n.791+967G>A | |
| ENST00000484283.5:c.512+967G>A | ENSP00000417165.1:n.512+967G>A | |
| ENST00000487132.5:c.518+967G>A | ENSP00000418798.1:n.518+967G>A | |
| ENST00000487763.5:c.218+967G>A | ENSP00000417807.1:n.218+967G>A | |
| ENST00000488328.5:c.182+967G>A | ENSP00000417460.1:n.182+967G>A | |
| ENST00000488741.5:c.164+967G>A | ENSP00000419075.1:n.164+967G>A | |
| ENST00000490460.5:c.*88+967G>A | ENSP00000417058.1:n.*88+967G>A | |
| ENST00000490511.1:c.194+967G>A | ENSP00000417327.1:n.194+967G>A | |
| ENST00000495960.5:c.*583+967G>A | ENSP00000420453.1:n.*583+967G>A | |
| NM_001267562.1:c.392+967G>A | NP_001254491.1:n.392+967G>A | |
| NM_001267563.1:c.203+967G>A | NP_001254492.1:n.203+967G>A | |
| NM_001267564.1:c.701+967G>A | NP_001254493.1:n.701+967G>A | |
| NM_001267567.1:c.269+967G>A | NP_001254496.1:n.269+967G>A | |
| NM_001267568.1:c.182+967G>A | NP_001254497.1:n.182+967G>A | |
| NM_001267569.1:c.218+967G>A | NP_001254498.1:n.218+967G>A | |
| NM_001267570.1:c.230+967G>A | NP_001254499.1:n.230+967G>A | |
| NM_181571.2:c.755+967G>A | NP_853549.1:n.755+967G>A | |
| NM_182717.1:c.218+967G>A | NP_874386.1:n.218+967G>A | |
| NM_182718.1:c.182+967G>A | NP_874387.1:n.182+967G>A | |
| NM_182719.1:c.218+967G>A | NP_874388.1:n.218+967G>A | |
| NM_182720.1:c.182+967G>A | NP_874389.1:n.182+967G>A | |
| NM_182721.1:c.194+967G>A | NP_874390.1:n.194+967G>A | |
| NM_182723.1:c.164+967G>A | NP_874392.1:n.164+967G>A | |
| NM_182724.1:c.194+967G>A | NP_874393.1:n.194+967G>A | |
| NM_182769.2:c.590+967G>A | NP_877570.1:n.590+967G>A | |
| NM_182770.2:c.401+967G>A | NP_877571.1:n.401+967G>A | |
| NM_182771.1:c.665+967G>A | NP_877572.1:n.665+967G>A | |
| NM_182772.1:c.476+967G>A | NP_877573.1:n.476+967G>A | |
| NM_183011.1:c.755+967G>A | NP_898829.1:n.755+967G>A | |
| NM_183012.1:c.566+967G>A | NP_898830.1:n.566+967G>A | |
| NM_183013.2:c.602+967G>A | NP_898831.1:n.602+967G>A | |
| NM_183060.2:c.518+967G>A | NP_898883.1:n.518+967G>A | |
| NR_051971.1:n.398+967G>A | ||
| NR_051972.1:n.398+967G>A | ||
| NR_051973.1:n.510+967G>A | ||
| NR_051974.1:n.510+967G>A | ||
| NR_051975.1:n.634+967G>A | ||
| XM_006717378.2:c.755+967G>A | XP_006717441.1:n.755+967G>A | |
| XM_006717379.2:c.755+967G>A | XP_006717442.1:n.755+967G>A | |
| XM_006717382.2:c.566+967G>A | XP_006717445.1:n.566+967G>A | |
| XM_006717383.2:c.566+967G>A | XP_006717446.1:n.566+967G>A | |
| XM_006717387.2:c.791+967G>A | XP_006717450.1:n.791+967G>A | |
| XM_011519316.1:c.938+967G>A | XP_011517618.1:n.938+967G>A | |
| XM_011519317.1:c.938+967G>A | XP_011517619.1:n.938+967G>A | |
| XM_011519318.1:c.938+967G>A | XP_011517620.1:n.938+967G>A | |
| XM_011519319.1:c.902+967G>A | XP_011517621.1:n.902+967G>A | |
| XM_011519320.1:c.902+967G>A | XP_011517622.1:n.902+967G>A | |
| XM_011519321.1:c.890+967G>A | XP_011517623.1:n.890+967G>A | |
| XM_011519322.1:c.890+967G>A | XP_011517624.1:n.890+967G>A | |
| XM_011519323.1:c.938+967G>A | XP_011517625.1:n.938+967G>A | |
| XM_011519324.1:c.791+967G>A | XP_011517626.1:n.791+967G>A | |
| XM_011519325.1:c.791+967G>A | XP_011517627.1:n.791+967G>A | |
| XM_011519326.1:c.743+967G>A | XP_011517628.1:n.743+967G>A | |
| XM_011519327.1:c.743+967G>A | XP_011517629.1:n.743+967G>A | |
| XM_011519328.1:c.713+967G>A | XP_011517630.1:n.713+967G>A | |
| XM_011519329.1:c.713+967G>A | XP_011517631.1:n.713+967G>A | |
| XM_011519330.1:c.626+967G>A | XP_011517632.1:n.626+967G>A | |
| XM_011519331.1:c.590+967G>A | XP_011517633.1:n.590+967G>A | |
| XM_011519332.1:c.554+967G>A | XP_011517634.1:n.554+967G>A | |
| XM_011519333.1:c.428+967G>A | XP_011517635.1:n.428+967G>A | |
| XM_011519334.1:c.305+967G>A | XP_011517636.1:n.305+967G>A | |
| XM_011519335.1:c.305+967G>A | XP_011517637.1:n.305+967G>A | |
| XM_011519336.1:c.203+967G>A | XP_011517638.1:n.203+967G>A | |
| NM_001352445.1:c.143+967G>A | NP_001339374.1:n.143+967G>A | |
| NM_001352446.1:c.143+967G>A | NP_001339375.1:n.143+967G>A | |
| NM_001352465.1:c.143+967G>A | NP_001339394.1:n.143+967G>A | |
| NM_001352466.1:c.143+967G>A | NP_001339395.1:n.143+967G>A | |
| NM_001352467.1:c.143+967G>A | NP_001339396.1:n.143+967G>A | |
| XM_006717378.4:c.755+967G>A | XP_006717441.1:n.755+967G>A | |
| XM_006717379.3:c.755+967G>A | XP_006717442.1:n.755+967G>A | |
| XM_006717382.3:c.566+967G>A | XP_006717445.1:n.566+967G>A | |
| XM_006717383.3:c.566+967G>A | XP_006717446.1:n.566+967G>A | |
| XM_006717387.3:c.791+967G>A | XP_006717450.1:n.791+967G>A | |
| XM_011519324.2:c.791+967G>A | XP_011517626.1:n.791+967G>A | |
| XM_011519325.3:c.791+967G>A | XP_011517627.1:n.791+967G>A | |
| XM_011519327.3:c.743+967G>A | XP_011517629.1:n.743+967G>A | |
| XM_011519330.2:c.626+967G>A | XP_011517632.1:n.626+967G>A | |
| XM_011519331.2:c.590+967G>A | XP_011517633.1:n.590+967G>A | |
| XM_011519332.2:c.554+967G>A | XP_011517634.1:n.554+967G>A | |
| XM_011519335.2:c.305+967G>A | XP_011517637.1:n.305+967G>A | |
| XM_017015716.2:c.707+967G>A | XP_016871205.1:n.707+967G>A | |
| XM_017015717.2:c.707+967G>A | XP_016871206.1:n.707+967G>A | |
| XM_017015718.1:c.791+967G>A | XP_016871207.1:n.791+967G>A | |
| XM_017015719.2:c.707+967G>A | XP_016871208.1:n.707+967G>A | |
| XM_017015720.1:c.602+967G>A | XP_016871209.1:n.602+967G>A | |
| XM_017015721.2:c.554+967G>A | XP_016871210.1:n.554+967G>A | |
| XM_017015722.2:c.518+967G>A | XP_016871211.1:n.518+967G>A | |
| XM_017015723.2:c.518+967G>A | XP_016871212.1:n.518+967G>A | |
| XM_017015724.1:c.428+967G>A | XP_016871213.1:n.428+967G>A | |
| XM_017015725.1:c.428+967G>A | XP_016871214.1:n.428+967G>A | |
| XM_017015726.2:c.518+967G>A | XP_016871215.1:n.518+967G>A | |
| XM_017015727.1:c.392+967G>A | XP_016871216.1:n.392+967G>A | |
| XM_017015728.1:c.392+967G>A | XP_016871217.1:n.392+967G>A | |
| XM_017015729.1:c.392+967G>A | XP_016871218.1:n.392+967G>A | |
| XM_017015731.1:c.305+967G>A | XP_016871220.1:n.305+967G>A | |
| XM_017015732.1:c.305+967G>A | XP_016871221.1:n.305+967G>A | |
| XM_017015733.1:c.392+967G>A | XP_016871222.1:n.392+967G>A | |
| XM_017015734.2:c.269+967G>A | XP_016871223.1:n.269+967G>A | |
| XM_017015735.1:c.239+967G>A | XP_016871224.1:n.239+967G>A | |
| XM_017015736.1:c.239+967G>A | XP_016871225.1:n.239+967G>A | |
| XM_017015737.2:c.203+967G>A | XP_016871226.1:n.203+967G>A | |
| XM_024447820.1:c.743+967G>A | XP_024303588.1:n.743+967G>A | |
| XM_024447821.1:c.590+967G>A | XP_024303589.1:n.590+967G>A | |
| XM_024447822.1:c.554+967G>A | XP_024303590.1:n.554+967G>A | |
| XM_024447823.1:c.305+967G>A | XP_024303591.1:n.305+967G>A | |
| XM_024447824.1:c.938+967G>A | XP_024303592.1:n.938+967G>A | |
| NM_001267562.2:c.392+967G>A | NP_001254491.1:n.392+967G>A | |
| NM_001267563.2:c.203+967G>A | NP_001254492.1:n.203+967G>A | |
| NM_001267564.2:c.701+967G>A | NP_001254493.1:n.701+967G>A | |
| NM_001267567.2:c.269+967G>A | NP_001254496.1:n.269+967G>A | |
| NM_001267570.2:c.230+967G>A | NP_001254499.1:n.230+967G>A | |
| NM_001352465.2:c.143+967G>A | NP_001339394.1:n.143+967G>A | |
| NM_001352466.2:c.143+967G>A | NP_001339395.1:n.143+967G>A | |
| NM_001352467.2:c.143+967G>A | NP_001339396.1:n.143+967G>A | |
| NM_181571.3:c.755+967G>A | NP_853549.1:n.755+967G>A | |
| NM_182717.2:c.218+967G>A | NP_874386.1:n.218+967G>A | |
| NM_182718.2:c.182+967G>A | NP_874387.1:n.182+967G>A | |
| NM_182719.2:c.218+967G>A | NP_874388.1:n.218+967G>A | |
| NM_182720.2:c.182+967G>A | NP_874389.1:n.182+967G>A | |
| NM_182721.2:c.194+967G>A | NP_874390.1:n.194+967G>A | |
| NM_182723.2:c.164+967G>A | NP_874392.1:n.164+967G>A | |
| NM_182724.2:c.194+967G>A | NP_874393.1:n.194+967G>A | |
| NM_182769.3:c.590+967G>A | NP_877570.1:n.590+967G>A | |
| NM_182770.3:c.401+967G>A | NP_877571.1:n.401+967G>A | |
| NM_182771.2:c.665+967G>A | NP_877572.1:n.665+967G>A | |
| NM_182772.2:c.476+967G>A | NP_877573.1:n.476+967G>A | |
| NM_183013.3:c.602+967G>A | NP_898831.1:n.602+967G>A | |
| NM_001267568.2:c.182+967G>A | NP_001254497.1:n.182+967G>A | |
| NM_001267569.2:c.218+967G>A | NP_001254498.1:n.218+967G>A | |
| NM_183060.3:c.518+967G>A | NP_898883.1:n.518+967G>A | |
| NM_001394595.1:c.755+967G>A | NP_001381524.1:n.755+967G>A | |
| NM_001394598.1:c.743+967G>A | NP_001381527.1:n.743+967G>A | |
| NM_001394600.1:c.707+967G>A | NP_001381529.1:n.707+967G>A | |
| NM_001394602.1:c.707+967G>A | NP_001381531.1:n.707+967G>A | |
| NM_001394603.1:c.707+967G>A | NP_001381532.1:n.707+967G>A | |
| NM_001394605.1:c.590+967G>A | NP_001381534.1:n.590+967G>A | |
| NM_001394608.1:c.554+967G>A | NP_001381537.1:n.554+967G>A | |
| NM_001394610.1:c.554+967G>A | NP_001381539.1:n.554+967G>A | |
| NM_001394613.1:c.518+967G>A | NP_001381542.1:n.518+967G>A | |
| NM_001394614.1:c.518+967G>A | NP_001381543.1:n.518+967G>A | |
| NM_001394615.1:c.428+967G>A | NP_001381544.1:n.428+967G>A | |
| NM_001394616.1:c.518+967G>A | NP_001381545.1:n.518+967G>A | |
| NM_001394617.1:c.392+967G>A | NP_001381546.1:n.392+967G>A | |
| NM_001394618.1:c.392+967G>A | NP_001381547.1:n.392+967G>A | |
| NM_001394619.1:c.392+967G>A | NP_001381548.1:n.392+967G>A | |
| NM_001394621.1:c.305+967G>A | NP_001381550.1:n.305+967G>A | |
| NM_001394622.1:c.392+967G>A | NP_001381551.1:n.392+967G>A | |
| NM_001394623.1:c.269+967G>A | NP_001381552.1:n.269+967G>A | |
| NM_001394625.1:c.239+967G>A | NP_001381554.1:n.239+967G>A | |
| NM_001394626.1:c.239+967G>A | NP_001381555.1:n.239+967G>A | |
| NM_001394627.1:c.239+967G>A | NP_001381556.1:n.239+967G>A | |
| NM_001394628.1:c.203+967G>A | NP_001381557.1:n.203+967G>A | |
| NM_001394629.1:c.203+967G>A | NP_001381558.1:n.203+967G>A | |
| NM_001394630.1:c.203+967G>A | NP_001381559.1:n.203+967G>A | |
| NM_183011.2:c.755+967G>A MANE Select | NP_898829.1:n.755+967G>A | |
| NM_183012.2:c.566+967G>A | NP_898830.1:n.566+967G>A | |
| NR_172139.1:n.727+967G>A |