Linked Data
ClinVar Variation Id:
56250
dbSNP Id:
rs386833701
ExAC:
16:28489060 C / A
gnomAD v2:
16-28489060-C-A
gnomAD v4:
16-28477739-C-A
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28477739C>A , CM000678.2:g.28477739C>A | GRCh38 |
| NC_000016.9:g.28489060C>A , CM000678.1:g.28489060C>A | GRCh37 |
| NC_000016.8:g.28396561C>A | NCBI36 |
| NG_008654.2:g.19564G>T , LRG_689:g.19564G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.1123G>T | ENSP00000329171.9:p.Glu375Ter | |
| ENST00000355477.10:c.1051G>T | ENSP00000347660.7:p.Glu351Ter | |
| ENST00000357857.14:c.1033G>T | ENSP00000350523.9:p.Glu345Ter | |
| ENST00000359984.12:c.1195G>T | ENSP00000353073.9:p.Glu399Ter | |
| ENST00000360019.8:c.1123G>T | ENSP00000353116.3:p.Glu375Ter | |
| ENST00000395653.9:c.736G>T | ENSP00000379014.5:p.Glu246Ter | |
| ENST00000561689.6:n.1608G>T | ||
| ENST00000564091.6:c.535G>T | ENSP00000454466.2:p.Glu179Ter | |
| ENST00000565316.6:c.1144G>T | ENSP00000456117.1:p.Glu382Ter | |
| ENST00000567963.6:c.1033G>T | ENSP00000455387.2:p.Glu345Ter | |
| ENST00000568076.6:n.1624G>T | ||
| ENST00000568422.6:c.*432G>T | ENSP00000455549.2:n.*432G>T | |
| ENST00000568452.6:n.1426G>T | ||
| ENST00000569430.7:c.1195G>T | ENSP00000454229.1:p.Glu399Ter | |
| ENST00000628023.3:c.*491G>T | ENSP00000486178.1:n.*491G>T | |
| ENST00000635861.1:c.*847G>T | ENSP00000490034.1:n.*847G>T | |
| ENST00000635887.1:c.1195G>T | ENSP00000490709.1:p.Glu399Ter | |
| ENST00000635958.1:n.1602G>T | ||
| ENST00000636017.1:c.*719G>T | ENSP00000490538.1:n.*719G>T | |
| ENST00000636078.1:n.1317G>T | ||
| ENST00000636147.2:c.1195G>T MANE Select | ENSP00000490105.1:p.Glu399Ter | |
| ENST00000636172.1:c.*719G>T | ENSP00000490505.1:n.*719G>T | |
| ENST00000636228.1:c.889G>T | ENSP00000489627.1:p.Glu297Ter | |
| ENST00000636351.1:n.1089G>T | ||
| ENST00000636503.1:c.*225G>T | ENSP00000489824.1:n.*225G>T | |
| ENST00000636766.1:c.1195G>T | ENSP00000489841.1:p.Glu399Ter | |
| ENST00000636839.1:n.1691G>T | ||
| ENST00000636853.1:n.2208G>T | ||
| ENST00000636866.1:c.1195G>T | ENSP00000490880.1:p.Glu399Ter | |
| ENST00000636907.1:n.1346G>T | ||
| ENST00000636977.1:n.2687G>T | ||
| ENST00000637050.1:n.1584G>T | ||
| ENST00000637100.1:c.1006-3477G>T | ENSP00000490394.1:n.1006-3477G>T | |
| ENST00000637107.1:c.*719G>T | ENSP00000490248.1:n.*719G>T | |
| ENST00000637184.1:c.*225G>T | ENSP00000489952.1:n.*225G>T | |
| ENST00000637299.1:c.*1004G>T | ENSP00000489823.1:n.*1004G>T | |
| ENST00000637376.1:c.*225G>T | ENSP00000490758.1:n.*225G>T | |
| ENST00000637378.1:c.228+4366G>T | ENSP00000490831.1:n.228+4366G>T | |
| ENST00000637578.1:c.*719G>T | ENSP00000490206.1:n.*719G>T | |
| ENST00000637699.1:c.1106G>T | ENSP00000490049.1:n.1106G>T | |
| ENST00000637745.1:c.632G>T | ||
| ENST00000637871.1:c.*893G>T | ENSP00000490670.1:n.*893G>T | |
| ENST00000638036.1:c.357G>T | ||
| ENST00000333496.13:c.1123G>T | ENSP00000329171.9:p.Glu375Ter | |
| ENST00000355477.9:c.*432G>T | ENSP00000347660.6:n.*432G>T | |
| ENST00000357806.11:c.898G>T | ENSP00000350457.7:p.Glu300Ter | |
| ENST00000357857.13:c.1033G>T | ENSP00000350523.9:p.Glu345Ter | |
| ENST00000359984.11:c.889G>T | ENSP00000353073.8:p.Glu297Ter | |
| ENST00000360019.6:c.1195G>T | ENSP00000353116.2:p.Glu399Ter | |
| ENST00000395653.8:c.895G>T | ENSP00000379014.4:p.Glu299Ter | |
| ENST00000561689.5:n.1164G>T | ||
| ENST00000563874.5:n.2723G>T | ||
| ENST00000564091.5:c.284G>T | ||
| ENST00000565140.5:c.1103G>T | ENSP00000455342.1:n.1103G>T | |
| ENST00000565316.5:c.1144G>T | ENSP00000456117.1:p.Glu382Ter | |
| ENST00000565354.5:n.508G>T | ||
| ENST00000566057.5:c.809G>T | ENSP00000456693.1:n.809G>T | |
| ENST00000567963.5:c.907-104G>T | ENSP00000455387.1:n.907-104G>T | |
| ENST00000568076.5:n.1106G>T | ||
| ENST00000568224.4:c.961G>T | ENSP00000454253.1:p.Glu321Ter | |
| ENST00000568422.5:c.*432G>T | ENSP00000455549.1:n.*432G>T | |
| ENST00000568452.5:n.1323G>T | ||
| ENST00000569030.5:c.987G>T | ENSP00000454680.1:n.987G>T | |
| ENST00000569430.5:c.1195G>T | ENSP00000454229.1:p.Glu399Ter | |
| ENST00000628023.2:c.*491G>T | ENSP00000486178.1:n.*491G>T | |
| ENST00000631023.2:c.907-104G>T | ENSP00000486616.1:n.907-104G>T | |
| NM_000086.2:c.1195G>T , LRG_689t1:c.1195G>T | NP_000077.1:p.Glu399Ter | |
| NM_001042432.1:c.1195G>T , LRG_689t2:c.1195G>T | NP_001035897.1:p.Glu399Ter | |
| NM_001286104.1:c.1123G>T | NP_001273033.1:p.Glu375Ter | |
| NM_001286105.1:c.895G>T | NP_001273034.1:p.Glu299Ter | |
| NM_001286109.1:c.961G>T | NP_001273038.1:p.Glu321Ter | |
| NM_001286110.1:c.1033G>T | NP_001273039.1:p.Glu345Ter | |
| NM_001042432.2:c.1195G>T MANE Select | NP_001035897.1:p.Glu399Ter | |
| NM_001286104.2:c.1123G>T | NP_001273033.1:p.Glu375Ter | |
| NM_001286105.2:c.895G>T | NP_001273034.1:p.Glu299Ter | |
| NM_001286109.2:c.961G>T | NP_001273038.1:p.Glu321Ter | |
| NM_001286110.2:c.1033G>T | NP_001273039.1:p.Glu345Ter |