Linked Data
ClinVar Variation Id:
56246
dbSNP Id:
rs386833697
gnomAD v2:
16-28493428-G-A
gnomAD v3:
16-28482107-G-A
gnomAD v4:
16-28482107-G-A
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28482107G>A , CM000678.2:g.28482107G>A | GRCh38 |
| NC_000016.9:g.28493428G>A , CM000678.1:g.28493428G>A | GRCh37 |
| NC_000016.8:g.28400929G>A | NCBI36 |
| NG_008654.2:g.15196C>T , LRG_689:g.15196C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333496.14:c.982C>T | ENSP00000329171.9:p.Gln328Ter | |
| ENST00000355477.10:c.910C>T | ENSP00000347660.7:p.Gln304Ter | |
| ENST00000357857.14:c.892C>T | ENSP00000350523.9:p.Gln298Ter | |
| ENST00000359984.12:c.1054C>T | ENSP00000353073.9:p.Gln352Ter | |
| ENST00000360019.8:c.982C>T | ENSP00000353116.3:p.Gln328Ter | |
| ENST00000395653.9:c.595C>T | ENSP00000379014.5:p.Gln199Ter | |
| ENST00000561689.6:n.1467C>T | ||
| ENST00000564091.6:c.394C>T | ENSP00000454466.2:p.Gln132Ter | |
| ENST00000565316.6:c.1003C>T | ENSP00000456117.1:p.Gln335Ter | |
| ENST00000566824.6:n.1114C>T | ||
| ENST00000567963.6:c.892C>T | ENSP00000455387.2:p.Gln298Ter | |
| ENST00000568076.6:n.1483C>T | ||
| ENST00000568422.6:c.*291C>T | ENSP00000455549.2:n.*291C>T | |
| ENST00000568452.6:n.1285C>T | ||
| ENST00000568497.6:c.85C>T | ||
| ENST00000569430.7:c.1054C>T | ENSP00000454229.1:p.Gln352Ter | |
| ENST00000628023.3:c.*350C>T | ENSP00000486178.1:n.*350C>T | |
| ENST00000635861.1:c.*706C>T | ENSP00000490034.1:n.*706C>T | |
| ENST00000635887.1:c.1054C>T | ENSP00000490709.1:p.Gln352Ter | |
| ENST00000635958.1:n.1339C>T | ||
| ENST00000635973.1:c.805C>T | ENSP00000490363.1:p.Gln269Ter | |
| ENST00000636017.1:c.*578C>T | ENSP00000490538.1:n.*578C>T | |
| ENST00000636078.1:n.1176C>T | ||
| ENST00000636147.2:c.1054C>T MANE Select | ENSP00000490105.1:p.Gln352Ter | |
| ENST00000636172.1:c.*578C>T | ENSP00000490505.1:n.*578C>T | |
| ENST00000636228.1:c.748C>T | ENSP00000489627.1:p.Gln250Ter | |
| ENST00000636351.1:n.948C>T | ||
| ENST00000636503.1:c.1054C>T | ENSP00000489824.1:p.Gln352Ter | |
| ENST00000636685.1:n.735C>T | ||
| ENST00000636766.1:c.1054C>T | ENSP00000489841.1:p.Gln352Ter | |
| ENST00000636839.1:n.1428C>T | ||
| ENST00000636853.1:n.1969C>T | ||
| ENST00000636866.1:c.1054C>T | ENSP00000490880.1:p.Gln352Ter | |
| ENST00000636907.1:n.1205C>T | ||
| ENST00000636977.1:n.2424C>T | ||
| ENST00000637050.1:n.1443C>T | ||
| ENST00000637100.1:c.1003C>T | ENSP00000490394.1:p.Gln335Ter | |
| ENST00000637107.1:c.*578C>T | ENSP00000490248.1:n.*578C>T | |
| ENST00000637184.1:c.1054C>T | ENSP00000489952.1:p.Gln352Ter | |
| ENST00000637299.1:c.*863C>T | ENSP00000489823.1:n.*863C>T | |
| ENST00000637376.1:c.1054C>T | ENSP00000490758.1:p.Gln352Ter | |
| ENST00000637378.1:c.226C>T | ENSP00000490831.1:p.Gln76Ter | |
| ENST00000637578.1:c.*578C>T | ENSP00000490206.1:n.*578C>T | |
| ENST00000637699.1:c.965C>T | ENSP00000490049.1:n.965C>T | |
| ENST00000637745.1:c.393C>T | ||
| ENST00000637871.1:c.*752C>T | ENSP00000490670.1:n.*752C>T | |
| ENST00000638036.1:c.216C>T | ||
| ENST00000333496.13:c.982C>T | ENSP00000329171.9:p.Gln328Ter | |
| ENST00000355477.9:c.*291C>T | ENSP00000347660.6:n.*291C>T | |
| ENST00000357806.11:c.757C>T | ENSP00000350457.7:p.Gln253Ter | |
| ENST00000357857.13:c.892C>T | ENSP00000350523.9:p.Gln298Ter | |
| ENST00000359984.11:c.748C>T | ENSP00000353073.8:p.Gln250Ter | |
| ENST00000360019.6:c.1054C>T | ENSP00000353116.2:p.Gln352Ter | |
| ENST00000395653.8:c.754C>T | ENSP00000379014.4:p.Gln252Ter | |
| ENST00000561689.5:n.1023C>T | ||
| ENST00000563874.5:n.2582C>T | ||
| ENST00000564091.5:c.143C>T | ||
| ENST00000565140.5:c.837C>T | ENSP00000455342.1:n.837C>T | |
| ENST00000565316.5:c.1003C>T | ENSP00000456117.1:p.Gln335Ter | |
| ENST00000565354.5:n.367C>T | ||
| ENST00000566057.5:c.668C>T | ENSP00000456693.1:n.668C>T | |
| ENST00000567963.5:c.906+370C>T | ENSP00000455387.1:n.906+370C>T | |
| ENST00000568076.5:n.965C>T | ||
| ENST00000568224.4:c.820C>T | ENSP00000454253.1:p.Gln274Ter | |
| ENST00000568422.5:c.*291C>T | ENSP00000455549.1:n.*291C>T | |
| ENST00000568452.5:n.1182C>T | ||
| ENST00000569030.5:c.724C>T | ENSP00000454680.1:p.Gln242Ter | |
| ENST00000569430.5:c.1054C>T | ENSP00000454229.1:p.Gln352Ter | |
| ENST00000628023.2:c.*350C>T | ENSP00000486178.1:n.*350C>T | |
| ENST00000631023.2:c.906+370C>T | ENSP00000486616.1:n.906+370C>T | |
| NM_000086.2:c.1054C>T , LRG_689t1:c.1054C>T | NP_000077.1:p.Gln352Ter | |
| NM_001042432.1:c.1054C>T , LRG_689t2:c.1054C>T | NP_001035897.1:p.Gln352Ter | |
| NM_001286104.1:c.982C>T | NP_001273033.1:p.Gln328Ter | |
| NM_001286105.1:c.754C>T | NP_001273034.1:p.Gln252Ter | |
| NM_001286109.1:c.820C>T | NP_001273038.1:p.Gln274Ter | |
| NM_001286110.1:c.892C>T | NP_001273039.1:p.Gln298Ter | |
| NM_001042432.2:c.1054C>T MANE Select | NP_001035897.1:p.Gln352Ter | |
| NM_001286104.2:c.982C>T | NP_001273033.1:p.Gln328Ter | |
| NM_001286105.2:c.754C>T | NP_001273034.1:p.Gln252Ter | |
| NM_001286109.2:c.820C>T | NP_001273038.1:p.Gln274Ter | |
| NM_001286110.2:c.892C>T | NP_001273039.1:p.Gln298Ter |