Linked Data
ClinVar Variation Id:
56255
ClinVar RCV Id:
RCV000049667
dbSNP Id:
rs386833706
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28477565G>T , CM000678.2:g.28477565G>T | GRCh38 |
| NC_000016.9:g.28488886G>T , CM000678.1:g.28488886G>T | GRCh37 |
| NC_000016.8:g.28396387G>T | NCBI36 |
| NG_008654.2:g.19738C>A , LRG_689:g.19738C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.1196C>A | ENSP00000329171.9:p.Ser399Ter | |
| ENST00000355477.10:c.1124C>A | ENSP00000347660.7:p.Ser375Ter | |
| ENST00000357857.14:c.1106C>A | ENSP00000350523.9:p.Ser369Ter | |
| ENST00000359984.12:c.1268C>A | ENSP00000353073.9:p.Ser423Ter | |
| ENST00000360019.8:c.1196C>A | ENSP00000353116.3:p.Ser399Ter | |
| ENST00000395653.9:c.809C>A | ENSP00000379014.5:p.Ser270Ter | |
| ENST00000561689.6:n.1681C>A | ||
| ENST00000564091.6:c.608C>A | ENSP00000454466.2:p.Ser203Ter | |
| ENST00000565316.6:c.1217C>A | ENSP00000456117.1:p.Ser406Ter | |
| ENST00000567963.6:c.1106C>A | ENSP00000455387.2:p.Ser369Ter | |
| ENST00000568076.6:n.1697C>A | ||
| ENST00000568422.6:c.*505C>A | ENSP00000455549.2:n.*505C>A | |
| ENST00000568452.6:n.1499C>A | ||
| ENST00000569430.7:c.1268C>A | ENSP00000454229.1:p.Ser423Ter | |
| ENST00000628023.3:c.*564C>A | ENSP00000486178.1:n.*564C>A | |
| ENST00000635861.1:c.*920C>A | ENSP00000490034.1:n.*920C>A | |
| ENST00000635887.1:c.1268C>A | ENSP00000490709.1:p.Ser423Ter | |
| ENST00000635958.1:n.1675C>A | ||
| ENST00000636017.1:c.*792C>A | ENSP00000490538.1:n.*792C>A | |
| ENST00000636078.1:n.1390C>A | ||
| ENST00000636147.2:c.1268C>A MANE Select | ENSP00000490105.1:p.Ser423Ter | |
| ENST00000636172.1:c.*792C>A | ENSP00000490505.1:n.*792C>A | |
| ENST00000636228.1:c.962C>A | ENSP00000489627.1:p.Ser321Ter | |
| ENST00000636351.1:n.1162C>A | ||
| ENST00000636503.1:c.*298C>A | ENSP00000489824.1:n.*298C>A | |
| ENST00000636766.1:c.1268C>A | ENSP00000489841.1:p.Ser423Ter | |
| ENST00000636839.1:n.1764C>A | ||
| ENST00000636853.1:n.2281C>A | ||
| ENST00000636866.1:c.*63C>A | ENSP00000490880.1:n.*63C>A | |
| ENST00000636907.1:n.1419C>A | ||
| ENST00000636977.1:n.2760C>A | ||
| ENST00000637050.1:n.1657C>A | ||
| ENST00000637100.1:c.1006-3303C>A | ENSP00000490394.1:n.1006-3303C>A | |
| ENST00000637107.1:c.*792C>A | ENSP00000490248.1:n.*792C>A | |
| ENST00000637184.1:c.*298C>A | ENSP00000489952.1:n.*298C>A | |
| ENST00000637299.1:c.*1077C>A | ENSP00000489823.1:n.*1077C>A | |
| ENST00000637376.1:c.*298C>A | ENSP00000490758.1:n.*298C>A | |
| ENST00000637378.1:c.228+4540C>A | ENSP00000490831.1:n.228+4540C>A | |
| ENST00000637578.1:c.*792C>A | ENSP00000490206.1:n.*792C>A | |
| ENST00000637699.1:c.1179C>A | ENSP00000490049.1:n.1179C>A | |
| ENST00000637745.1:c.705C>A | ||
| ENST00000637871.1:c.*966C>A | ENSP00000490670.1:n.*966C>A | |
| ENST00000638036.1:c.430C>A | ||
| ENST00000333496.13:c.1196C>A | ENSP00000329171.9:p.Ser399Ter | |
| ENST00000355477.9:c.*505C>A | ENSP00000347660.6:n.*505C>A | |
| ENST00000357806.11:c.971C>A | ENSP00000350457.7:p.Ser324Ter | |
| ENST00000357857.13:c.1106C>A | ENSP00000350523.9:p.Ser369Ter | |
| ENST00000359984.11:c.962C>A | ENSP00000353073.8:p.Ser321Ter | |
| ENST00000360019.6:c.1268C>A | ENSP00000353116.2:p.Ser423Ter | |
| ENST00000395653.8:c.968C>A | ENSP00000379014.4:p.Ser323Ter | |
| ENST00000561689.5:n.1237C>A | ||
| ENST00000563874.5:n.2796C>A | ||
| ENST00000564091.5:c.357C>A | ||
| ENST00000565140.5:c.1176C>A | ENSP00000455342.1:n.1176C>A | |
| ENST00000565316.5:c.1217C>A | ENSP00000456117.1:p.Ser406Ter | |
| ENST00000565354.5:n.581C>A | ||
| ENST00000566057.5:c.882C>A | ENSP00000456693.1:n.882C>A | |
| ENST00000567963.5:c.977C>A | ENSP00000455387.1:p.Ser326Ter | |
| ENST00000568076.5:n.1179C>A | ||
| ENST00000568224.4:c.1034C>A | ENSP00000454253.1:p.Ser345Ter | |
| ENST00000568422.5:c.*505C>A | ENSP00000455549.1:n.*505C>A | |
| ENST00000568452.5:n.1396C>A | ||
| ENST00000569030.5:c.1060C>A | ENSP00000454680.1:n.1060C>A | |
| ENST00000569430.5:c.1268C>A | ENSP00000454229.1:p.Ser423Ter | |
| ENST00000628023.2:c.*564C>A | ENSP00000486178.1:n.*564C>A | |
| ENST00000631023.2:c.977C>A | ENSP00000486616.1:p.Ser326Ter | |
| NM_000086.2:c.1268C>A , LRG_689t1:c.1268C>A | NP_000077.1:p.Ser423Ter | |
| NM_001042432.1:c.1268C>A , LRG_689t2:c.1268C>A | NP_001035897.1:p.Ser423Ter | |
| NM_001286104.1:c.1196C>A | NP_001273033.1:p.Ser399Ter | |
| NM_001286105.1:c.968C>A | NP_001273034.1:p.Ser323Ter | |
| NM_001286109.1:c.1034C>A | NP_001273038.1:p.Ser345Ter | |
| NM_001286110.1:c.1106C>A | NP_001273039.1:p.Ser369Ter | |
| NM_001042432.2:c.1268C>A MANE Select | NP_001035897.1:p.Ser423Ter | |
| NM_001286104.2:c.1196C>A | NP_001273033.1:p.Ser399Ter | |
| NM_001286105.2:c.968C>A | NP_001273034.1:p.Ser323Ter | |
| NM_001286109.2:c.1034C>A | NP_001273038.1:p.Ser345Ter | |
| NM_001286110.2:c.1106C>A | NP_001273039.1:p.Ser369Ter |