Linked Data
ClinVar Variation Id:
205083
dbSNP Id:
rs369008702
ExAC:
16:28493836 C / A
gnomAD v2:
16-28493836-C-A
gnomAD v3:
16-28482515-C-A
gnomAD v4:
16-28482515-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28482515C>A , CM000678.2:g.28482515C>A | GRCh38 |
| NC_000016.9:g.28493836C>A , CM000678.1:g.28493836C>A | GRCh37 |
| NC_000016.8:g.28401337C>A | NCBI36 |
| NG_008654.2:g.14788G>T , LRG_689:g.14788G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.796G>T | ENSP00000329171.9:p.Val266Leu | |
| ENST00000355477.10:c.724G>T | ENSP00000347660.7:p.Val242Leu | |
| ENST00000357857.14:c.706G>T | ENSP00000350523.9:p.Val236Leu | |
| ENST00000359984.12:c.868G>T | ENSP00000353073.9:p.Val290Leu | |
| ENST00000360019.8:c.796G>T | ENSP00000353116.3:p.Val266Leu | |
| ENST00000395653.9:c.409G>T | ENSP00000379014.5:p.Val137Leu | |
| ENST00000561689.6:n.1153G>T | ||
| ENST00000564091.6:c.208G>T | ENSP00000454466.2:p.Val70Leu | |
| ENST00000565316.6:c.855+93G>T | ENSP00000456117.1:n.855+93G>T | |
| ENST00000565778.6:c.499G>T | ENSP00000458015.1:p.Val167Leu | |
| ENST00000566083.6:n.1406G>T | ||
| ENST00000566824.6:n.928G>T | ||
| ENST00000567963.6:c.706G>T | ENSP00000455387.2:p.Val236Leu | |
| ENST00000568076.6:n.1075G>T | ||
| ENST00000568422.6:c.*105G>T | ENSP00000455549.2:n.*105G>T | |
| ENST00000568452.6:n.971G>T | ||
| ENST00000568472.6:n.824G>T | ||
| ENST00000568497.6:c.-102G>T | ENSP00000456414.2:n.-102G>T | |
| ENST00000569430.7:c.868G>T | ENSP00000454229.1:p.Val290Leu | |
| ENST00000628023.3:c.*164G>T | ENSP00000486178.1:n.*164G>T | |
| ENST00000635861.1:c.*392G>T | ENSP00000490034.1:n.*392G>T | |
| ENST00000635887.1:c.868G>T | ENSP00000490709.1:p.Val290Leu | |
| ENST00000635958.1:n.1059G>T | ||
| ENST00000635973.1:c.619G>T | ENSP00000490363.1:p.Val207Leu | |
| ENST00000636017.1:c.*392G>T | ENSP00000490538.1:n.*392G>T | |
| ENST00000636078.1:n.990G>T | ||
| ENST00000636147.2:c.868G>T MANE Select | ENSP00000490105.1:p.Val290Leu | |
| ENST00000636172.1:c.*392G>T | ENSP00000490505.1:n.*392G>T | |
| ENST00000636228.1:c.562G>T | ENSP00000489627.1:p.Val188Leu | |
| ENST00000636351.1:n.668G>T | ||
| ENST00000636503.1:c.868G>T | ENSP00000489824.1:p.Val290Leu | |
| ENST00000636685.1:n.455G>T | ||
| ENST00000636766.1:c.868G>T | ENSP00000489841.1:p.Val290Leu | |
| ENST00000636839.1:n.1020G>T | ||
| ENST00000636853.1:n.1783G>T | ||
| ENST00000636866.1:c.868G>T | ENSP00000490880.1:p.Val290Leu | |
| ENST00000636907.1:n.1019G>T | ||
| ENST00000636977.1:n.2016G>T | ||
| ENST00000637050.1:n.1035G>T | ||
| ENST00000637100.1:c.855+93G>T | ENSP00000490394.1:n.855+93G>T | |
| ENST00000637107.1:c.*392G>T | ENSP00000490248.1:n.*392G>T | |
| ENST00000637184.1:c.868G>T | ENSP00000489952.1:p.Val290Leu | |
| ENST00000637299.1:c.*677G>T | ENSP00000489823.1:n.*677G>T | |
| ENST00000637376.1:c.868G>T | ENSP00000490758.1:p.Val290Leu | |
| ENST00000637378.1:c.40G>T | ENSP00000490831.1:p.Val14Leu | |
| ENST00000637578.1:c.*392G>T | ENSP00000490206.1:n.*392G>T | |
| ENST00000637699.1:c.651G>T | ENSP00000490049.1:n.651G>T | |
| ENST00000637745.1:c.207G>T | ||
| ENST00000637871.1:c.*472G>T | ENSP00000490670.1:n.*472G>T | |
| ENST00000638036.1:c.30G>T | ||
| ENST00000333496.13:c.796G>T | ENSP00000329171.9:p.Val266Leu | |
| ENST00000355477.9:c.*105G>T | ENSP00000347660.6:n.*105G>T | |
| ENST00000357806.11:c.571G>T | ENSP00000350457.7:p.Val191Leu | |
| ENST00000357857.13:c.706G>T | ENSP00000350523.9:p.Val236Leu | |
| ENST00000359984.11:c.562G>T | ENSP00000353073.8:p.Val188Leu | |
| ENST00000360019.6:c.868G>T | ENSP00000353116.2:p.Val290Leu | |
| ENST00000395653.8:c.568G>T | ENSP00000379014.4:p.Val190Leu | |
| ENST00000561689.5:n.709G>T | ||
| ENST00000563874.5:n.2302G>T | ||
| ENST00000564574.5:n.916G>T | ||
| ENST00000565140.5:c.651G>T | ENSP00000455342.1:n.651G>T | |
| ENST00000565316.5:c.855+93G>T | ENSP00000456117.1:n.855+93G>T | |
| ENST00000565354.5:n.87G>T | ||
| ENST00000565778.5:c.499G>T | ENSP00000458015.1:p.Val167Leu | |
| ENST00000566057.5:c.482G>T | ENSP00000456693.1:n.482G>T | |
| ENST00000566083.5:n.1179G>T | ||
| ENST00000566824.5:n.997G>T | ||
| ENST00000567495.5:c.*105G>T | ENSP00000456013.1:n.*105G>T | |
| ENST00000567963.5:c.868G>T | ENSP00000455387.1:p.Val290Leu | |
| ENST00000568076.5:n.651G>T | ||
| ENST00000568224.4:c.634G>T | ENSP00000454253.1:p.Val212Leu | |
| ENST00000568422.5:c.*105G>T | ENSP00000455549.1:n.*105G>T | |
| ENST00000568452.5:n.868G>T | ||
| ENST00000568472.5:n.348G>T | ||
| ENST00000568497.5:c.*164G>T | ENSP00000456414.1:n.*164G>T | |
| ENST00000568558.5:c.409G>T | ENSP00000455603.1:p.Val137Leu | |
| ENST00000569030.5:c.538G>T | ENSP00000454680.1:p.Val180Leu | |
| ENST00000569430.5:c.868G>T | ENSP00000454229.1:p.Val290Leu | |
| ENST00000628023.2:c.*164G>T | ENSP00000486178.1:n.*164G>T | |
| ENST00000631023.2:c.868G>T | ENSP00000486616.1:p.Val290Leu | |
| NM_000086.2:c.868G>T , LRG_689t1:c.868G>T | NP_000077.1:p.Val290Leu | |
| NM_001042432.1:c.868G>T , LRG_689t2:c.868G>T | NP_001035897.1:p.Val290Leu | |
| NM_001286104.1:c.796G>T | NP_001273033.1:p.Val266Leu | |
| NM_001286105.1:c.568G>T | NP_001273034.1:p.Val190Leu | |
| NM_001286109.1:c.634G>T | NP_001273038.1:p.Val212Leu | |
| NM_001286110.1:c.706G>T | NP_001273039.1:p.Val236Leu | |
| NM_001042432.2:c.868G>T MANE Select | NP_001035897.1:p.Val290Leu | |
| NM_001286104.2:c.796G>T | NP_001273033.1:p.Val266Leu | |
| NM_001286105.2:c.568G>T | NP_001273034.1:p.Val190Leu | |
| NM_001286109.2:c.634G>T | NP_001273038.1:p.Val212Leu | |
| NM_001286110.2:c.706G>T | NP_001273039.1:p.Val236Leu |