Linked Data
dbSNP Id:
rs1057108
ExAC:
10:35484949 T / G
gnomAD v2:
10-35484949-T-G
gnomAD v3:
10-35196021-T-G
gnomAD v4:
10-35196021-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.35196021T>G , CM000672.2:g.35196021T>G | GRCh38 |
| NC_000010.10:g.35484949T>G , CM000672.1:g.35484949T>G | GRCh37 |
| NC_000010.9:g.35524955T>G | NCBI36 |
| NG_029065.1:g.74149T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395887.8:c.509-5430T>G | ENSP00000379225.3:n.509-5430T>G | |
| ENST00000487132.6:c.362-10874T>G | ENSP00000418798.2:n.362-10874T>G | |
| ENST00000685392.1:c.598+7633T>G MANE Select | ENSP00000509489.1:n.598+7633T>G | |
| ENST00000686585.1:c.598+7633T>G | ENSP00000510546.1:n.598+7633T>G | |
| ENST00000337656.8:c.598+7633T>G | ENSP00000337138.4:n.598+7633T>G | |
| ENST00000342105.7:c.433+7633T>G | ENSP00000341875.3:n.433+7633T>G | |
| ENST00000344351.5:c.-136T>G | ENSP00000344365.5:n.-136T>G | |
| ENST00000345491.7:c.598+7633T>G | ENSP00000265372.5:n.598+7633T>G | |
| ENST00000348787.6:c.362-10874T>G | ENSP00000345384.2:n.362-10874T>G | |
| ENST00000354759.7:c.410-5430T>G | ENSP00000346804.3:n.410-5430T>G | |
| ENST00000356917.9:c.25+807T>G | ENSP00000349387.5:n.25+807T>G | |
| ENST00000361599.8:c.508+7633T>G | ENSP00000354593.4:n.508+7633T>G | |
| ENST00000374721.7:c.509-10874T>G | ENSP00000363853.3:n.509-10874T>G | |
| ENST00000374728.7:c.362-10874T>G | ENSP00000363860.3:n.362-10874T>G | |
| ENST00000374734.7:c.410-10874T>G | ENSP00000363866.3:n.410-10874T>G | |
| ENST00000395887.7:c.509-5430T>G | ENSP00000379225.3:n.509-5430T>G | |
| ENST00000429130.7:c.698-5430T>G | ENSP00000393538.2:n.698-5430T>G | |
| ENST00000439705.5:c.410-5430T>G | ENSP00000409220.2:n.410-5430T>G | |
| ENST00000460270.5:c.-14-10874T>G | ENSP00000420437.1:n.-14-10874T>G | |
| ENST00000461968.5:n.488-10874T>G | ||
| ENST00000463314.5:c.112+7633T>G | ENSP00000418336.1:n.112+7633T>G | |
| ENST00000463960.5:c.242-5430T>G | ENSP00000419684.2:n.242-5430T>G | |
| ENST00000464475.1:c.92-10874T>G | ||
| ENST00000466251.5:n.428-10874T>G | ||
| ENST00000468236.5:c.-42T>G | ENSP00000419810.1:n.-42T>G | |
| ENST00000473940.5:c.25+807T>G | ENSP00000420681.1:n.25+807T>G | |
| ENST00000474362.5:c.-14-10874T>G | ENSP00000419018.1:n.-14-10874T>G | |
| ENST00000474931.5:c.-42T>G | ENSP00000417562.1:n.-42T>G | |
| ENST00000479070.5:c.599-5430T>G | ENSP00000420511.1:n.599-5430T>G | |
| ENST00000484283.5:c.320-5430T>G | ENSP00000417165.1:n.320-5430T>G | |
| ENST00000487132.5:c.362-10874T>G | ENSP00000418798.1:n.362-10874T>G | |
| ENST00000487763.5:c.25+807T>G | ENSP00000417807.1:n.25+807T>G | |
| ENST00000488328.5:c.25+807T>G | ENSP00000417460.1:n.25+807T>G | |
| ENST00000488741.5:c.-151T>G | ENSP00000419075.1:n.-151T>G | |
| ENST00000490460.5:c.121-10874T>G | ENSP00000417058.1:n.121-10874T>G | |
| ENST00000490511.1:c.-42T>G | ENSP00000417327.1:n.-42T>G | |
| ENST00000494479.5:c.235+7633T>G | ENSP00000417399.1:n.235+7633T>G | |
| ENST00000495960.5:c.*426+7633T>G | ENSP00000420453.1:n.*426+7633T>G | |
| NM_001267562.1:c.235+7633T>G | NP_001254491.1:n.235+7633T>G | |
| NM_001267563.1:c.47-10874T>G | NP_001254492.1:n.47-10874T>G | |
| NM_001267564.1:c.509-5430T>G | NP_001254493.1:n.509-5430T>G | |
| NM_001267567.1:c.112+7633T>G | NP_001254496.1:n.112+7633T>G | |
| NM_001267568.1:c.25+807T>G | NP_001254497.1:n.25+807T>G | |
| NM_001267569.1:c.25+807T>G | NP_001254498.1:n.25+807T>G | |
| NM_001267570.1:c.-42T>G | NP_001254499.1:n.-42T>G | |
| NM_181571.2:c.598+7633T>G | NP_853549.1:n.598+7633T>G | |
| NM_182717.1:c.25+807T>G | NP_874386.1:n.25+807T>G | |
| NM_182718.1:c.25+807T>G | NP_874387.1:n.25+807T>G | |
| NM_182719.1:c.25+807T>G | NP_874388.1:n.25+807T>G | |
| NM_182720.1:c.25+807T>G | NP_874389.1:n.25+807T>G | |
| NM_182721.1:c.-42T>G | NP_874390.1:n.-42T>G | |
| NM_182723.1:c.-151T>G | NP_874392.1:n.-151T>G | |
| NM_182724.1:c.-42T>G | NP_874393.1:n.-42T>G | |
| NM_182769.2:c.433+7633T>G | NP_877570.1:n.433+7633T>G | |
| NM_182770.2:c.245-10874T>G | NP_877571.1:n.245-10874T>G | |
| NM_182771.1:c.508+7633T>G | NP_877572.1:n.508+7633T>G | |
| NM_182772.1:c.320-10874T>G | NP_877573.1:n.320-10874T>G | |
| NM_183011.1:c.598+7633T>G | NP_898829.1:n.598+7633T>G | |
| NM_183012.1:c.410-10874T>G | NP_898830.1:n.410-10874T>G | |
| NM_183013.2:c.410-5430T>G | NP_898831.1:n.410-5430T>G | |
| NM_183060.2:c.362-10874T>G | NP_898883.1:n.362-10874T>G | |
| NR_051971.1:n.120T>G | ||
| NR_051972.1:n.120T>G | ||
| NR_051973.1:n.354-10874T>G | ||
| NR_051974.1:n.354-10874T>G | ||
| NR_051975.1:n.478-10874T>G | ||
| XM_006717378.2:c.598+7633T>G | XP_006717441.1:n.598+7633T>G | |
| XM_006717379.2:c.598+7633T>G | XP_006717442.1:n.598+7633T>G | |
| XM_006717382.2:c.410-10874T>G | XP_006717445.1:n.410-10874T>G | |
| XM_006717383.2:c.410-10874T>G | XP_006717446.1:n.410-10874T>G | |
| XM_006717387.2:c.599-5430T>G | XP_006717450.1:n.599-5430T>G | |
| XM_011519316.1:c.746-5430T>G | XP_011517618.1:n.746-5430T>G | |
| XM_011519317.1:c.746-5430T>G | XP_011517619.1:n.746-5430T>G | |
| XM_011519318.1:c.746-5430T>G | XP_011517620.1:n.746-5430T>G | |
| XM_011519319.1:c.745+7633T>G | XP_011517621.1:n.745+7633T>G | |
| XM_011519320.1:c.745+7633T>G | XP_011517622.1:n.745+7633T>G | |
| XM_011519321.1:c.698-5430T>G | XP_011517623.1:n.698-5430T>G | |
| XM_011519322.1:c.698-5430T>G | XP_011517624.1:n.698-5430T>G | |
| XM_011519323.1:c.746-5430T>G | XP_011517625.1:n.746-5430T>G | |
| XM_011519324.1:c.599-5430T>G | XP_011517626.1:n.599-5430T>G | |
| XM_011519325.1:c.599-5430T>G | XP_011517627.1:n.599-5430T>G | |
| XM_011519326.1:c.551-5430T>G | XP_011517628.1:n.551-5430T>G | |
| XM_011519327.1:c.551-5430T>G | XP_011517629.1:n.551-5430T>G | |
| XM_011519328.1:c.557-10874T>G | XP_011517630.1:n.557-10874T>G | |
| XM_011519329.1:c.557-10874T>G | XP_011517631.1:n.557-10874T>G | |
| XM_011519330.1:c.434-5430T>G | XP_011517632.1:n.434-5430T>G | |
| XM_011519331.1:c.398-5430T>G | XP_011517633.1:n.398-5430T>G | |
| XM_011519332.1:c.397+7633T>G | XP_011517634.1:n.397+7633T>G | |
| XM_011519333.1:c.236-5430T>G | XP_011517635.1:n.236-5430T>G | |
| XM_011519334.1:c.113-5430T>G | XP_011517636.1:n.113-5430T>G | |
| XM_011519335.1:c.113-5430T>G | XP_011517637.1:n.113-5430T>G | |
| XM_011519336.1:c.47-10874T>G | XP_011517638.1:n.47-10874T>G | |
| NM_001352445.1:c.-136T>G | NP_001339374.1:n.-136T>G | |
| NM_001352446.1:c.-136T>G | NP_001339375.1:n.-136T>G | |
| NM_001352465.1:c.-14-10874T>G | NP_001339394.1:n.-14-10874T>G | |
| NM_001352466.1:c.-14-10874T>G | NP_001339395.1:n.-14-10874T>G | |
| NM_001352467.1:c.-14-10874T>G | NP_001339396.1:n.-14-10874T>G | |
| XM_006717378.4:c.598+7633T>G | XP_006717441.1:n.598+7633T>G | |
| XM_006717379.3:c.598+7633T>G | XP_006717442.1:n.598+7633T>G | |
| XM_006717382.3:c.410-10874T>G | XP_006717445.1:n.410-10874T>G | |
| XM_006717383.3:c.410-10874T>G | XP_006717446.1:n.410-10874T>G | |
| XM_006717387.3:c.599-5430T>G | XP_006717450.1:n.599-5430T>G | |
| XM_011519324.2:c.599-5430T>G | XP_011517626.1:n.599-5430T>G | |
| XM_011519325.3:c.599-5430T>G | XP_011517627.1:n.599-5430T>G | |
| XM_011519327.3:c.551-5430T>G | XP_011517629.1:n.551-5430T>G | |
| XM_011519330.2:c.434-5430T>G | XP_011517632.1:n.434-5430T>G | |
| XM_011519331.2:c.398-5430T>G | XP_011517633.1:n.398-5430T>G | |
| XM_011519332.2:c.397+7633T>G | XP_011517634.1:n.397+7633T>G | |
| XM_011519335.2:c.113-5430T>G | XP_011517637.1:n.113-5430T>G | |
| XM_017015716.2:c.550+7633T>G | XP_016871205.1:n.550+7633T>G | |
| XM_017015717.2:c.550+7633T>G | XP_016871206.1:n.550+7633T>G | |
| XM_017015718.1:c.599-5430T>G | XP_016871207.1:n.599-5430T>G | |
| XM_017015719.2:c.550+7633T>G | XP_016871208.1:n.550+7633T>G | |
| XM_017015720.1:c.410-5430T>G | XP_016871209.1:n.410-5430T>G | |
| XM_017015721.2:c.362-5430T>G | XP_016871210.1:n.362-5430T>G | |
| XM_017015722.2:c.362-10874T>G | XP_016871211.1:n.362-10874T>G | |
| XM_017015723.2:c.362-10874T>G | XP_016871212.1:n.362-10874T>G | |
| XM_017015724.1:c.236-5430T>G | XP_016871213.1:n.236-5430T>G | |
| XM_017015725.1:c.236-5430T>G | XP_016871214.1:n.236-5430T>G | |
| XM_017015726.2:c.362-10874T>G | XP_016871215.1:n.362-10874T>G | |
| XM_017015727.1:c.235+7633T>G | XP_016871216.1:n.235+7633T>G | |
| XM_017015728.1:c.235+7633T>G | XP_016871217.1:n.235+7633T>G | |
| XM_017015729.1:c.235+7633T>G | XP_016871218.1:n.235+7633T>G | |
| XM_017015731.1:c.113-5430T>G | XP_016871220.1:n.113-5430T>G | |
| XM_017015732.1:c.113-5430T>G | XP_016871221.1:n.113-5430T>G | |
| XM_017015733.1:c.235+7633T>G | XP_016871222.1:n.235+7633T>G | |
| XM_017015734.2:c.112+7633T>G | XP_016871223.1:n.112+7633T>G | |
| XM_017015735.1:c.47-5430T>G | XP_016871224.1:n.47-5430T>G | |
| XM_017015736.1:c.47-5430T>G | XP_016871225.1:n.47-5430T>G | |
| XM_017015737.2:c.47-10874T>G | XP_016871226.1:n.47-10874T>G | |
| XM_024447820.1:c.551-5430T>G | XP_024303588.1:n.551-5430T>G | |
| XM_024447821.1:c.433+7633T>G | XP_024303589.1:n.433+7633T>G | |
| XM_024447822.1:c.362-5430T>G | XP_024303590.1:n.362-5430T>G | |
| XM_024447823.1:c.113-5430T>G | XP_024303591.1:n.113-5430T>G | |
| XM_024447824.1:c.746-5430T>G | XP_024303592.1:n.746-5430T>G | |
| NM_001267562.2:c.235+7633T>G | NP_001254491.1:n.235+7633T>G | |
| NM_001267563.2:c.47-10874T>G | NP_001254492.1:n.47-10874T>G | |
| NM_001267564.2:c.509-5430T>G | NP_001254493.1:n.509-5430T>G | |
| NM_001267567.2:c.112+7633T>G | NP_001254496.1:n.112+7633T>G | |
| NM_001267570.2:c.-42T>G | NP_001254499.1:n.-42T>G | |
| NM_001352465.2:c.-14-10874T>G | NP_001339394.1:n.-14-10874T>G | |
| NM_001352466.2:c.-14-10874T>G | NP_001339395.1:n.-14-10874T>G | |
| NM_001352467.2:c.-14-10874T>G | NP_001339396.1:n.-14-10874T>G | |
| NM_181571.3:c.598+7633T>G | NP_853549.1:n.598+7633T>G | |
| NM_182717.2:c.25+807T>G | NP_874386.1:n.25+807T>G | |
| NM_182718.2:c.25+807T>G | NP_874387.1:n.25+807T>G | |
| NM_182719.2:c.25+807T>G | NP_874388.1:n.25+807T>G | |
| NM_182720.2:c.25+807T>G | NP_874389.1:n.25+807T>G | |
| NM_182721.2:c.-42T>G | NP_874390.1:n.-42T>G | |
| NM_182723.2:c.-151T>G | NP_874392.1:n.-151T>G | |
| NM_182724.2:c.-42T>G | NP_874393.1:n.-42T>G | |
| NM_182769.3:c.433+7633T>G | NP_877570.1:n.433+7633T>G | |
| NM_182770.3:c.245-10874T>G | NP_877571.1:n.245-10874T>G | |
| NM_182771.2:c.508+7633T>G | NP_877572.1:n.508+7633T>G | |
| NM_182772.2:c.320-10874T>G | NP_877573.1:n.320-10874T>G | |
| NM_183013.3:c.410-5430T>G | NP_898831.1:n.410-5430T>G | |
| NM_001267568.2:c.25+807T>G | NP_001254497.1:n.25+807T>G | |
| NM_001267569.2:c.25+807T>G | NP_001254498.1:n.25+807T>G | |
| NM_183060.3:c.362-10874T>G | NP_898883.1:n.362-10874T>G | |
| NM_001394595.1:c.598+7633T>G | NP_001381524.1:n.598+7633T>G | |
| NM_001394598.1:c.551-5430T>G | NP_001381527.1:n.551-5430T>G | |
| NM_001394600.1:c.550+7633T>G | NP_001381529.1:n.550+7633T>G | |
| NM_001394602.1:c.550+7633T>G | NP_001381531.1:n.550+7633T>G | |
| NM_001394603.1:c.550+7633T>G | NP_001381532.1:n.550+7633T>G | |
| NM_001394605.1:c.433+7633T>G | NP_001381534.1:n.433+7633T>G | |
| NM_001394608.1:c.362-5430T>G | NP_001381537.1:n.362-5430T>G | |
| NM_001394610.1:c.362-5430T>G | NP_001381539.1:n.362-5430T>G | |
| NM_001394613.1:c.362-10874T>G | NP_001381542.1:n.362-10874T>G | |
| NM_001394614.1:c.362-10874T>G | NP_001381543.1:n.362-10874T>G | |
| NM_001394615.1:c.236-5430T>G | NP_001381544.1:n.236-5430T>G | |
| NM_001394616.1:c.362-10874T>G | NP_001381545.1:n.362-10874T>G | |
| NM_001394617.1:c.235+7633T>G | NP_001381546.1:n.235+7633T>G | |
| NM_001394618.1:c.235+7633T>G | NP_001381547.1:n.235+7633T>G | |
| NM_001394619.1:c.235+7633T>G | NP_001381548.1:n.235+7633T>G | |
| NM_001394621.1:c.113-5430T>G | NP_001381550.1:n.113-5430T>G | |
| NM_001394622.1:c.235+7633T>G | NP_001381551.1:n.235+7633T>G | |
| NM_001394623.1:c.112+7633T>G | NP_001381552.1:n.112+7633T>G | |
| NM_001394625.1:c.47-5430T>G | NP_001381554.1:n.47-5430T>G | |
| NM_001394626.1:c.47-5430T>G | NP_001381555.1:n.47-5430T>G | |
| NM_001394627.1:c.47-5430T>G | NP_001381556.1:n.47-5430T>G | |
| NM_001394628.1:c.47-10874T>G | NP_001381557.1:n.47-10874T>G | |
| NM_001394629.1:c.47-10874T>G | NP_001381558.1:n.47-10874T>G | |
| NM_001394630.1:c.47-10874T>G | NP_001381559.1:n.47-10874T>G | |
| NM_183011.2:c.598+7633T>G MANE Select | NP_898829.1:n.598+7633T>G | |
| NM_183012.2:c.410-10874T>G | NP_898830.1:n.410-10874T>G | |
| NR_172139.1:n.571-10874T>G |