Linked Data
ClinVar Variation Id:
56295
ClinVar RCV Id:
RCV000049707
dbSNP Id:
rs386833743
ExAC:
16:28493503 G / A
gnomAD v2:
16-28493503-G-A
gnomAD v4:
16-28482182-G-A
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28482182G>A , CM000678.2:g.28482182G>A | GRCh38 |
| NC_000016.9:g.28493503G>A , CM000678.1:g.28493503G>A | GRCh37 |
| NC_000016.8:g.28401004G>A | NCBI36 |
| NG_008654.2:g.15121C>T , LRG_689:g.15121C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.907C>T | ENSP00000329171.9:p.Gln303Ter | |
| ENST00000355477.10:c.835C>T | ENSP00000347660.7:p.Gln279Ter | |
| ENST00000357857.14:c.817C>T | ENSP00000350523.9:p.Gln273Ter | |
| ENST00000359984.12:c.979C>T | ENSP00000353073.9:p.Gln327Ter | |
| ENST00000360019.8:c.907C>T | ENSP00000353116.3:p.Gln303Ter | |
| ENST00000395653.9:c.520C>T | ENSP00000379014.5:p.Gln174Ter | |
| ENST00000561689.6:n.1392C>T | ||
| ENST00000564091.6:c.319C>T | ENSP00000454466.2:p.Gln107Ter | |
| ENST00000565316.6:c.928C>T | ENSP00000456117.1:p.Gln310Ter | |
| ENST00000566824.6:n.1039C>T | ||
| ENST00000567963.6:c.817C>T | ENSP00000455387.2:p.Gln273Ter | |
| ENST00000568076.6:n.1408C>T | ||
| ENST00000568422.6:c.*216C>T | ENSP00000455549.2:n.*216C>T | |
| ENST00000568452.6:n.1210C>T | ||
| ENST00000568497.6:c.10C>T | ENSP00000456414.2:p.Gln4Ter | |
| ENST00000569430.7:c.979C>T | ENSP00000454229.1:p.Gln327Ter | |
| ENST00000628023.3:c.*275C>T | ENSP00000486178.1:n.*275C>T | |
| ENST00000635861.1:c.*631C>T | ENSP00000490034.1:n.*631C>T | |
| ENST00000635887.1:c.979C>T | ENSP00000490709.1:p.Gln327Ter | |
| ENST00000635958.1:n.1264C>T | ||
| ENST00000635973.1:c.730C>T | ENSP00000490363.1:p.Gln244Ter | |
| ENST00000636017.1:c.*503C>T | ENSP00000490538.1:n.*503C>T | |
| ENST00000636078.1:n.1101C>T | ||
| ENST00000636147.2:c.979C>T MANE Select | ENSP00000490105.1:p.Gln327Ter | |
| ENST00000636172.1:c.*503C>T | ENSP00000490505.1:n.*503C>T | |
| ENST00000636228.1:c.673C>T | ENSP00000489627.1:p.Gln225Ter | |
| ENST00000636351.1:n.873C>T | ||
| ENST00000636503.1:c.979C>T | ENSP00000489824.1:p.Gln327Ter | |
| ENST00000636685.1:n.660C>T | ||
| ENST00000636766.1:c.979C>T | ENSP00000489841.1:p.Gln327Ter | |
| ENST00000636839.1:n.1353C>T | ||
| ENST00000636853.1:n.1894C>T | ||
| ENST00000636866.1:c.979C>T | ENSP00000490880.1:p.Gln327Ter | |
| ENST00000636907.1:n.1130C>T | ||
| ENST00000636977.1:n.2349C>T | ||
| ENST00000637050.1:n.1368C>T | ||
| ENST00000637100.1:c.928C>T | ENSP00000490394.1:p.Gln310Ter | |
| ENST00000637107.1:c.*503C>T | ENSP00000490248.1:n.*503C>T | |
| ENST00000637184.1:c.979C>T | ENSP00000489952.1:p.Gln327Ter | |
| ENST00000637299.1:c.*788C>T | ENSP00000489823.1:n.*788C>T | |
| ENST00000637376.1:c.979C>T | ENSP00000490758.1:p.Gln327Ter | |
| ENST00000637378.1:c.151C>T | ENSP00000490831.1:p.Gln51Ter | |
| ENST00000637578.1:c.*503C>T | ENSP00000490206.1:n.*503C>T | |
| ENST00000637699.1:c.890C>T | ENSP00000490049.1:n.890C>T | |
| ENST00000637745.1:c.318C>T | ||
| ENST00000637871.1:c.*677C>T | ENSP00000490670.1:n.*677C>T | |
| ENST00000638036.1:c.141C>T | ||
| ENST00000333496.13:c.907C>T | ENSP00000329171.9:p.Gln303Ter | |
| ENST00000355477.9:c.*216C>T | ENSP00000347660.6:n.*216C>T | |
| ENST00000357806.11:c.682C>T | ENSP00000350457.7:p.Gln228Ter | |
| ENST00000357857.13:c.817C>T | ENSP00000350523.9:p.Gln273Ter | |
| ENST00000359984.11:c.673C>T | ENSP00000353073.8:p.Gln225Ter | |
| ENST00000360019.6:c.979C>T | ENSP00000353116.2:p.Gln327Ter | |
| ENST00000395653.8:c.679C>T | ENSP00000379014.4:p.Gln227Ter | |
| ENST00000561689.5:n.948C>T | ||
| ENST00000563874.5:n.2507C>T | ||
| ENST00000564091.5:c.68C>T | ||
| ENST00000564574.5:n.1155C>T | ||
| ENST00000565140.5:c.762C>T | ENSP00000455342.1:n.762C>T | |
| ENST00000565316.5:c.928C>T | ENSP00000456117.1:p.Gln310Ter | |
| ENST00000565354.5:n.292C>T | ||
| ENST00000566057.5:c.593C>T | ENSP00000456693.1:n.593C>T | |
| ENST00000567963.5:c.906+295C>T | ENSP00000455387.1:n.906+295C>T | |
| ENST00000568076.5:n.890C>T | ||
| ENST00000568224.4:c.745C>T | ENSP00000454253.1:p.Gln249Ter | |
| ENST00000568422.5:c.*216C>T | ENSP00000455549.1:n.*216C>T | |
| ENST00000568452.5:n.1107C>T | ||
| ENST00000568472.5:n.459C>T | ||
| ENST00000568558.5:c.520C>T | ENSP00000455603.1:p.Gln174Ter | |
| ENST00000569030.5:c.649C>T | ENSP00000454680.1:p.Gln217Ter | |
| ENST00000569430.5:c.979C>T | ENSP00000454229.1:p.Gln327Ter | |
| ENST00000628023.2:c.*275C>T | ENSP00000486178.1:n.*275C>T | |
| ENST00000631023.2:c.906+295C>T | ENSP00000486616.1:n.906+295C>T | |
| NM_000086.2:c.979C>T , LRG_689t1:c.979C>T | NP_000077.1:p.Gln327Ter | |
| NM_001042432.1:c.979C>T , LRG_689t2:c.979C>T | NP_001035897.1:p.Gln327Ter | |
| NM_001286104.1:c.907C>T | NP_001273033.1:p.Gln303Ter | |
| NM_001286105.1:c.679C>T | NP_001273034.1:p.Gln227Ter | |
| NM_001286109.1:c.745C>T | NP_001273038.1:p.Gln249Ter | |
| NM_001286110.1:c.817C>T | NP_001273039.1:p.Gln273Ter | |
| NM_001042432.2:c.979C>T MANE Select | NP_001035897.1:p.Gln327Ter | |
| NM_001286104.2:c.907C>T | NP_001273033.1:p.Gln303Ter | |
| NM_001286105.2:c.679C>T | NP_001273034.1:p.Gln227Ter | |
| NM_001286109.2:c.745C>T | NP_001273038.1:p.Gln249Ter | |
| NM_001286110.2:c.817C>T | NP_001273039.1:p.Gln273Ter |