Linked Data
ClinVar Variation Id:
56290
dbSNP Id:
rs121434286
gnomAD v3:
16-28482500-C-A
gnomAD v4:
16-28482500-C-A
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28482500C>A , CM000678.2:g.28482500C>A | GRCh38 |
| NC_000016.9:g.28493821C>A , CM000678.1:g.28493821C>A | GRCh37 |
| NC_000016.8:g.28401322C>A | NCBI36 |
| NG_008654.2:g.14803G>T , LRG_689:g.14803G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333496.14:c.811G>T | ENSP00000329171.9:p.Glu271Ter | |
| ENST00000355477.10:c.739G>T | ENSP00000347660.7:p.Glu247Ter | |
| ENST00000357857.14:c.721G>T | ENSP00000350523.9:p.Glu241Ter | |
| ENST00000359984.12:c.883G>T | ENSP00000353073.9:p.Glu295Ter | |
| ENST00000360019.8:c.811G>T | ENSP00000353116.3:p.Glu271Ter | |
| ENST00000395653.9:c.424G>T | ENSP00000379014.5:p.Glu142Ter | |
| ENST00000561689.6:n.1168G>T | ||
| ENST00000564091.6:c.223G>T | ENSP00000454466.2:p.Glu75Ter | |
| ENST00000565316.6:c.855+108G>T | ENSP00000456117.1:n.855+108G>T | |
| ENST00000566824.6:n.943G>T | ||
| ENST00000567963.6:c.721G>T | ENSP00000455387.2:p.Glu241Ter | |
| ENST00000568076.6:n.1090G>T | ||
| ENST00000568422.6:c.*120G>T | ENSP00000455549.2:n.*120G>T | |
| ENST00000568452.6:n.986G>T | ||
| ENST00000568472.6:n.839G>T | ||
| ENST00000568497.6:c.-87G>T | ENSP00000456414.2:n.-87G>T | |
| ENST00000569430.7:c.883G>T | ENSP00000454229.1:p.Glu295Ter | |
| ENST00000628023.3:c.*179G>T | ENSP00000486178.1:n.*179G>T | |
| ENST00000635861.1:c.*407G>T | ENSP00000490034.1:n.*407G>T | |
| ENST00000635887.1:c.883G>T | ENSP00000490709.1:p.Glu295Ter | |
| ENST00000635958.1:n.1074G>T | ||
| ENST00000635973.1:c.634G>T | ENSP00000490363.1:p.Glu212Ter | |
| ENST00000636017.1:c.*407G>T | ENSP00000490538.1:n.*407G>T | |
| ENST00000636078.1:n.1005G>T | ||
| ENST00000636147.2:c.883G>T MANE Select | ENSP00000490105.1:p.Glu295Ter | |
| ENST00000636172.1:c.*407G>T | ENSP00000490505.1:n.*407G>T | |
| ENST00000636228.1:c.577G>T | ENSP00000489627.1:p.Glu193Ter | |
| ENST00000636351.1:n.683G>T | ||
| ENST00000636503.1:c.883G>T | ENSP00000489824.1:p.Glu295Ter | |
| ENST00000636685.1:n.470G>T | ||
| ENST00000636766.1:c.883G>T | ENSP00000489841.1:p.Glu295Ter | |
| ENST00000636839.1:n.1035G>T | ||
| ENST00000636853.1:n.1798G>T | ||
| ENST00000636866.1:c.883G>T | ENSP00000490880.1:p.Glu295Ter | |
| ENST00000636907.1:n.1034G>T | ||
| ENST00000636977.1:n.2031G>T | ||
| ENST00000637050.1:n.1050G>T | ||
| ENST00000637100.1:c.855+108G>T | ENSP00000490394.1:n.855+108G>T | |
| ENST00000637107.1:c.*407G>T | ENSP00000490248.1:n.*407G>T | |
| ENST00000637184.1:c.883G>T | ENSP00000489952.1:p.Glu295Ter | |
| ENST00000637299.1:c.*692G>T | ENSP00000489823.1:n.*692G>T | |
| ENST00000637376.1:c.883G>T | ENSP00000490758.1:p.Glu295Ter | |
| ENST00000637378.1:c.55G>T | ENSP00000490831.1:p.Glu19Ter | |
| ENST00000637578.1:c.*407G>T | ENSP00000490206.1:n.*407G>T | |
| ENST00000637699.1:c.666G>T | ENSP00000490049.1:n.666G>T | |
| ENST00000637745.1:c.222G>T | ||
| ENST00000637871.1:c.*487G>T | ENSP00000490670.1:n.*487G>T | |
| ENST00000638036.1:c.45G>T | ||
| ENST00000333496.13:c.811G>T | ENSP00000329171.9:p.Glu271Ter | |
| ENST00000355477.9:c.*120G>T | ENSP00000347660.6:n.*120G>T | |
| ENST00000357806.11:c.586G>T | ENSP00000350457.7:p.Glu196Ter | |
| ENST00000357857.13:c.721G>T | ENSP00000350523.9:p.Glu241Ter | |
| ENST00000359984.11:c.577G>T | ENSP00000353073.8:p.Glu193Ter | |
| ENST00000360019.6:c.883G>T | ENSP00000353116.2:p.Glu295Ter | |
| ENST00000395653.8:c.583G>T | ENSP00000379014.4:p.Glu195Ter | |
| ENST00000561689.5:n.724G>T | ||
| ENST00000563874.5:n.2317G>T | ||
| ENST00000564574.5:n.931G>T | ||
| ENST00000565140.5:c.666G>T | ENSP00000455342.1:n.666G>T | |
| ENST00000565316.5:c.855+108G>T | ENSP00000456117.1:n.855+108G>T | |
| ENST00000565354.5:n.102G>T | ||
| ENST00000566057.5:c.497G>T | ENSP00000456693.1:n.497G>T | |
| ENST00000567495.5:c.*120G>T | ENSP00000456013.1:n.*120G>T | |
| ENST00000567963.5:c.883G>T | ENSP00000455387.1:p.Glu295Ter | |
| ENST00000568076.5:n.666G>T | ||
| ENST00000568224.4:c.649G>T | ENSP00000454253.1:p.Glu217Ter | |
| ENST00000568422.5:c.*120G>T | ENSP00000455549.1:n.*120G>T | |
| ENST00000568452.5:n.883G>T | ||
| ENST00000568472.5:n.363G>T | ||
| ENST00000568497.5:c.*179G>T | ENSP00000456414.1:n.*179G>T | |
| ENST00000568558.5:c.424G>T | ENSP00000455603.1:p.Glu142Ter | |
| ENST00000569030.5:c.553G>T | ENSP00000454680.1:p.Glu185Ter | |
| ENST00000569430.5:c.883G>T | ENSP00000454229.1:p.Glu295Ter | |
| ENST00000628023.2:c.*179G>T | ENSP00000486178.1:n.*179G>T | |
| ENST00000631023.2:c.883G>T | ENSP00000486616.1:p.Glu295Ter | |
| NM_000086.2:c.883G>T , LRG_689t1:c.883G>T | NP_000077.1:p.Glu295Ter | |
| NM_001042432.1:c.883G>T , LRG_689t2:c.883G>T | NP_001035897.1:p.Glu295Ter | |
| NM_001286104.1:c.811G>T | NP_001273033.1:p.Glu271Ter | |
| NM_001286105.1:c.583G>T | NP_001273034.1:p.Glu195Ter | |
| NM_001286109.1:c.649G>T | NP_001273038.1:p.Glu217Ter | |
| NM_001286110.1:c.721G>T | NP_001273039.1:p.Glu241Ter | |
| NM_001042432.2:c.883G>T MANE Select | NP_001035897.1:p.Glu295Ter | |
| NM_001286104.2:c.811G>T | NP_001273033.1:p.Glu271Ter | |
| NM_001286105.2:c.583G>T | NP_001273034.1:p.Glu195Ter | |
| NM_001286109.2:c.649G>T | NP_001273038.1:p.Glu217Ter | |
| NM_001286110.2:c.721G>T | NP_001273039.1:p.Glu241Ter |