Linked Data
ClinVar Variation Id:
56243
dbSNP Id:
rs386833694
ExAC:
16:28493482 G / A
gnomAD v2:
16-28493482-G-A
gnomAD v4:
16-28482161-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28482161G>A , CM000678.2:g.28482161G>A | GRCh38 |
| NC_000016.9:g.28493482G>A , CM000678.1:g.28493482G>A | GRCh37 |
| NC_000016.8:g.28400983G>A | NCBI36 |
| NG_008654.2:g.15142C>T , LRG_689:g.15142C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333496.14:c.928C>T | ENSP00000329171.9:p.Arg310Cys | |
| ENST00000355477.10:c.856C>T | ENSP00000347660.7:p.Arg286Cys | |
| ENST00000357857.14:c.838C>T | ENSP00000350523.9:p.Arg280Cys | |
| ENST00000359984.12:c.1000C>T | ENSP00000353073.9:p.Arg334Cys | |
| ENST00000360019.8:c.928C>T | ENSP00000353116.3:p.Arg310Cys | |
| ENST00000395653.9:c.541C>T | ENSP00000379014.5:p.Arg181Cys | |
| ENST00000561689.6:n.1413C>T | ||
| ENST00000564091.6:c.340C>T | ENSP00000454466.2:p.Arg114Cys | |
| ENST00000565316.6:c.949C>T | ENSP00000456117.1:p.Arg317Cys | |
| ENST00000566824.6:n.1060C>T | ||
| ENST00000567963.6:c.838C>T | ENSP00000455387.2:p.Arg280Cys | |
| ENST00000568076.6:n.1429C>T | ||
| ENST00000568422.6:c.*237C>T | ENSP00000455549.2:n.*237C>T | |
| ENST00000568452.6:n.1231C>T | ||
| ENST00000568497.6:c.31C>T | ENSP00000456414.2:p.Arg11Cys | |
| ENST00000569430.7:c.1000C>T | ENSP00000454229.1:p.Arg334Cys | |
| ENST00000628023.3:c.*296C>T | ENSP00000486178.1:n.*296C>T | |
| ENST00000635861.1:c.*652C>T | ENSP00000490034.1:n.*652C>T | |
| ENST00000635887.1:c.1000C>T | ENSP00000490709.1:p.Arg334Cys | |
| ENST00000635958.1:n.1285C>T | ||
| ENST00000635973.1:c.751C>T | ENSP00000490363.1:p.Arg251Cys | |
| ENST00000636017.1:c.*524C>T | ENSP00000490538.1:n.*524C>T | |
| ENST00000636078.1:n.1122C>T | ||
| ENST00000636147.2:c.1000C>T MANE Select | ENSP00000490105.1:p.Arg334Cys | |
| ENST00000636172.1:c.*524C>T | ENSP00000490505.1:n.*524C>T | |
| ENST00000636228.1:c.694C>T | ENSP00000489627.1:p.Arg232Cys | |
| ENST00000636351.1:n.894C>T | ||
| ENST00000636503.1:c.1000C>T | ENSP00000489824.1:p.Arg334Cys | |
| ENST00000636685.1:n.681C>T | ||
| ENST00000636766.1:c.1000C>T | ENSP00000489841.1:p.Arg334Cys | |
| ENST00000636839.1:n.1374C>T | ||
| ENST00000636853.1:n.1915C>T | ||
| ENST00000636866.1:c.1000C>T | ENSP00000490880.1:p.Arg334Cys | |
| ENST00000636907.1:n.1151C>T | ||
| ENST00000636977.1:n.2370C>T | ||
| ENST00000637050.1:n.1389C>T | ||
| ENST00000637100.1:c.949C>T | ENSP00000490394.1:p.Arg317Cys | |
| ENST00000637107.1:c.*524C>T | ENSP00000490248.1:n.*524C>T | |
| ENST00000637184.1:c.1000C>T | ENSP00000489952.1:p.Arg334Cys | |
| ENST00000637299.1:c.*809C>T | ENSP00000489823.1:n.*809C>T | |
| ENST00000637376.1:c.1000C>T | ENSP00000490758.1:p.Arg334Cys | |
| ENST00000637378.1:c.172C>T | ENSP00000490831.1:p.Arg58Cys | |
| ENST00000637578.1:c.*524C>T | ENSP00000490206.1:n.*524C>T | |
| ENST00000637699.1:c.911C>T | ENSP00000490049.1:n.911C>T | |
| ENST00000637745.1:c.339C>T | ||
| ENST00000637871.1:c.*698C>T | ENSP00000490670.1:n.*698C>T | |
| ENST00000638036.1:c.162C>T | ||
| ENST00000333496.13:c.928C>T | ENSP00000329171.9:p.Arg310Cys | |
| ENST00000355477.9:c.*237C>T | ENSP00000347660.6:n.*237C>T | |
| ENST00000357806.11:c.703C>T | ENSP00000350457.7:p.Arg235Cys | |
| ENST00000357857.13:c.838C>T | ENSP00000350523.9:p.Arg280Cys | |
| ENST00000359984.11:c.694C>T | ENSP00000353073.8:p.Arg232Cys | |
| ENST00000360019.6:c.1000C>T | ENSP00000353116.2:p.Arg334Cys | |
| ENST00000395653.8:c.700C>T | ENSP00000379014.4:p.Arg234Cys | |
| ENST00000561689.5:n.969C>T | ||
| ENST00000563874.5:n.2528C>T | ||
| ENST00000564091.5:c.89C>T | ||
| ENST00000565140.5:c.783C>T | ENSP00000455342.1:n.783C>T | |
| ENST00000565316.5:c.949C>T | ENSP00000456117.1:p.Arg317Cys | |
| ENST00000565354.5:n.313C>T | ||
| ENST00000566057.5:c.614C>T | ENSP00000456693.1:n.614C>T | |
| ENST00000567963.5:c.906+316C>T | ENSP00000455387.1:n.906+316C>T | |
| ENST00000568076.5:n.911C>T | ||
| ENST00000568224.4:c.766C>T | ENSP00000454253.1:p.Arg256Cys | |
| ENST00000568422.5:c.*237C>T | ENSP00000455549.1:n.*237C>T | |
| ENST00000568452.5:n.1128C>T | ||
| ENST00000568558.5:c.541C>T | ENSP00000455603.1:p.Arg181Cys | |
| ENST00000569030.5:c.670C>T | ENSP00000454680.1:p.Arg224Cys | |
| ENST00000569430.5:c.1000C>T | ENSP00000454229.1:p.Arg334Cys | |
| ENST00000628023.2:c.*296C>T | ENSP00000486178.1:n.*296C>T | |
| ENST00000631023.2:c.906+316C>T | ENSP00000486616.1:n.906+316C>T | |
| NM_000086.2:c.1000C>T , LRG_689t1:c.1000C>T | NP_000077.1:p.Arg334Cys | |
| NM_001042432.1:c.1000C>T , LRG_689t2:c.1000C>T | NP_001035897.1:p.Arg334Cys | |
| NM_001286104.1:c.928C>T | NP_001273033.1:p.Arg310Cys | |
| NM_001286105.1:c.700C>T | NP_001273034.1:p.Arg234Cys | |
| NM_001286109.1:c.766C>T | NP_001273038.1:p.Arg256Cys | |
| NM_001286110.1:c.838C>T | NP_001273039.1:p.Arg280Cys | |
| NM_001042432.2:c.1000C>T MANE Select | NP_001035897.1:p.Arg334Cys | |
| NM_001286104.2:c.928C>T | NP_001273033.1:p.Arg310Cys | |
| NM_001286105.2:c.700C>T | NP_001273034.1:p.Arg234Cys | |
| NM_001286109.2:c.766C>T | NP_001273038.1:p.Arg256Cys | |
| NM_001286110.2:c.838C>T | NP_001273039.1:p.Arg280Cys |