Linked Data
ClinVar Variation Id:
56296
dbSNP Id:
rs386833744
gnomAD v2:
16-28493494-C-A
gnomAD v4:
16-28482173-C-A
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28482173C>A , CM000678.2:g.28482173C>A | GRCh38 |
| NC_000016.9:g.28493494C>A , CM000678.1:g.28493494C>A | GRCh37 |
| NC_000016.8:g.28400995C>A | NCBI36 |
| NG_008654.2:g.15130G>T , LRG_689:g.15130G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.916G>T | ENSP00000329171.9:p.Val306Phe | |
| ENST00000355477.10:c.844G>T | ENSP00000347660.7:p.Val282Phe | |
| ENST00000357857.14:c.826G>T | ENSP00000350523.9:p.Val276Phe | |
| ENST00000359984.12:c.988G>T | ENSP00000353073.9:p.Val330Phe | |
| ENST00000360019.8:c.916G>T | ENSP00000353116.3:p.Val306Phe | |
| ENST00000395653.9:c.529G>T | ENSP00000379014.5:p.Val177Phe | |
| ENST00000561689.6:n.1401G>T | ||
| ENST00000564091.6:c.328G>T | ENSP00000454466.2:p.Val110Phe | |
| ENST00000565316.6:c.937G>T | ENSP00000456117.1:p.Val313Phe | |
| ENST00000566824.6:n.1048G>T | ||
| ENST00000567963.6:c.826G>T | ENSP00000455387.2:p.Val276Phe | |
| ENST00000568076.6:n.1417G>T | ||
| ENST00000568422.6:c.*225G>T | ENSP00000455549.2:n.*225G>T | |
| ENST00000568452.6:n.1219G>T | ||
| ENST00000568497.6:c.19G>T | ENSP00000456414.2:p.Val7Phe | |
| ENST00000569430.7:c.988G>T | ENSP00000454229.1:p.Val330Phe | |
| ENST00000628023.3:c.*284G>T | ENSP00000486178.1:n.*284G>T | |
| ENST00000635861.1:c.*640G>T | ENSP00000490034.1:n.*640G>T | |
| ENST00000635887.1:c.988G>T | ENSP00000490709.1:p.Val330Phe | |
| ENST00000635958.1:n.1273G>T | ||
| ENST00000635973.1:c.739G>T | ENSP00000490363.1:p.Val247Phe | |
| ENST00000636017.1:c.*512G>T | ENSP00000490538.1:n.*512G>T | |
| ENST00000636078.1:n.1110G>T | ||
| ENST00000636147.2:c.988G>T MANE Select | ENSP00000490105.1:p.Val330Phe | |
| ENST00000636172.1:c.*512G>T | ENSP00000490505.1:n.*512G>T | |
| ENST00000636228.1:c.682G>T | ENSP00000489627.1:p.Val228Phe | |
| ENST00000636351.1:n.882G>T | ||
| ENST00000636503.1:c.988G>T | ENSP00000489824.1:p.Val330Phe | |
| ENST00000636685.1:n.669G>T | ||
| ENST00000636766.1:c.988G>T | ENSP00000489841.1:p.Val330Phe | |
| ENST00000636839.1:n.1362G>T | ||
| ENST00000636853.1:n.1903G>T | ||
| ENST00000636866.1:c.988G>T | ENSP00000490880.1:p.Val330Phe | |
| ENST00000636907.1:n.1139G>T | ||
| ENST00000636977.1:n.2358G>T | ||
| ENST00000637050.1:n.1377G>T | ||
| ENST00000637100.1:c.937G>T | ENSP00000490394.1:p.Val313Phe | |
| ENST00000637107.1:c.*512G>T | ENSP00000490248.1:n.*512G>T | |
| ENST00000637184.1:c.988G>T | ENSP00000489952.1:p.Val330Phe | |
| ENST00000637299.1:c.*797G>T | ENSP00000489823.1:n.*797G>T | |
| ENST00000637376.1:c.988G>T | ENSP00000490758.1:p.Val330Phe | |
| ENST00000637378.1:c.160G>T | ENSP00000490831.1:p.Val54Phe | |
| ENST00000637578.1:c.*512G>T | ENSP00000490206.1:n.*512G>T | |
| ENST00000637699.1:c.899G>T | ENSP00000490049.1:n.899G>T | |
| ENST00000637745.1:c.327G>T | ||
| ENST00000637871.1:c.*686G>T | ENSP00000490670.1:n.*686G>T | |
| ENST00000638036.1:c.150G>T | ||
| ENST00000333496.13:c.916G>T | ENSP00000329171.9:p.Val306Phe | |
| ENST00000355477.9:c.*225G>T | ENSP00000347660.6:n.*225G>T | |
| ENST00000357806.11:c.691G>T | ENSP00000350457.7:p.Val231Phe | |
| ENST00000357857.13:c.826G>T | ENSP00000350523.9:p.Val276Phe | |
| ENST00000359984.11:c.682G>T | ENSP00000353073.8:p.Val228Phe | |
| ENST00000360019.6:c.988G>T | ENSP00000353116.2:p.Val330Phe | |
| ENST00000395653.8:c.688G>T | ENSP00000379014.4:p.Val230Phe | |
| ENST00000561689.5:n.957G>T | ||
| ENST00000563874.5:n.2516G>T | ||
| ENST00000564091.5:c.77G>T | ||
| ENST00000565140.5:c.771G>T | ENSP00000455342.1:n.771G>T | |
| ENST00000565316.5:c.937G>T | ENSP00000456117.1:p.Val313Phe | |
| ENST00000565354.5:n.301G>T | ||
| ENST00000566057.5:c.602G>T | ENSP00000456693.1:n.602G>T | |
| ENST00000567963.5:c.906+304G>T | ENSP00000455387.1:n.906+304G>T | |
| ENST00000568076.5:n.899G>T | ||
| ENST00000568224.4:c.754G>T | ENSP00000454253.1:p.Val252Phe | |
| ENST00000568422.5:c.*225G>T | ENSP00000455549.1:n.*225G>T | |
| ENST00000568452.5:n.1116G>T | ||
| ENST00000568472.5:n.468G>T | ||
| ENST00000568558.5:c.529G>T | ENSP00000455603.1:p.Val177Phe | |
| ENST00000569030.5:c.658G>T | ENSP00000454680.1:p.Val220Phe | |
| ENST00000569430.5:c.988G>T | ENSP00000454229.1:p.Val330Phe | |
| ENST00000628023.2:c.*284G>T | ENSP00000486178.1:n.*284G>T | |
| ENST00000631023.2:c.906+304G>T | ENSP00000486616.1:n.906+304G>T | |
| NM_000086.2:c.988G>T , LRG_689t1:c.988G>T | NP_000077.1:p.Val330Phe | |
| NM_001042432.1:c.988G>T , LRG_689t2:c.988G>T | NP_001035897.1:p.Val330Phe | |
| NM_001286104.1:c.916G>T | NP_001273033.1:p.Val306Phe | |
| NM_001286105.1:c.688G>T | NP_001273034.1:p.Val230Phe | |
| NM_001286109.1:c.754G>T | NP_001273038.1:p.Val252Phe | |
| NM_001286110.1:c.826G>T | NP_001273039.1:p.Val276Phe | |
| NM_001042432.2:c.988G>T MANE Select | NP_001035897.1:p.Val330Phe | |
| NM_001286104.2:c.916G>T | NP_001273033.1:p.Val306Phe | |
| NM_001286105.2:c.688G>T | NP_001273034.1:p.Val230Phe | |
| NM_001286109.2:c.754G>T | NP_001273038.1:p.Val252Phe | |
| NM_001286110.2:c.826G>T | NP_001273039.1:p.Val276Phe |