Linked Data
ClinVar Variation Id:
56252
dbSNP Id:
rs386833703
ExAC:
16:28488907 T / C
gnomAD v2:
16-28488907-T-C
gnomAD v3:
16-28477586-T-C
gnomAD v4:
16-28477586-T-C
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28477586T>C , CM000678.2:g.28477586T>C | GRCh38 |
| NC_000016.9:g.28488907T>C , CM000678.1:g.28488907T>C | GRCh37 |
| NC_000016.8:g.28396408T>C | NCBI36 |
| NG_008654.2:g.19717A>G , LRG_689:g.19717A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.1175A>G | ENSP00000329171.9:p.Asp392Gly | |
| ENST00000355477.10:c.1103A>G | ENSP00000347660.7:p.Asp368Gly | |
| ENST00000357857.14:c.1085A>G | ENSP00000350523.9:p.Asp362Gly | |
| ENST00000359984.12:c.1247A>G | ENSP00000353073.9:p.Asp416Gly | |
| ENST00000360019.8:c.1175A>G | ENSP00000353116.3:p.Asp392Gly | |
| ENST00000395653.9:c.788A>G | ENSP00000379014.5:p.Asp263Gly | |
| ENST00000561689.6:n.1660A>G | ||
| ENST00000564091.6:c.587A>G | ENSP00000454466.2:p.Asp196Gly | |
| ENST00000565316.6:c.1196A>G | ENSP00000456117.1:p.Asp399Gly | |
| ENST00000567963.6:c.1085A>G | ENSP00000455387.2:p.Asp362Gly | |
| ENST00000568076.6:n.1676A>G | ||
| ENST00000568422.6:c.*484A>G | ENSP00000455549.2:n.*484A>G | |
| ENST00000568452.6:n.1478A>G | ||
| ENST00000569430.7:c.1247A>G | ENSP00000454229.1:p.Asp416Gly | |
| ENST00000628023.3:c.*543A>G | ENSP00000486178.1:n.*543A>G | |
| ENST00000635861.1:c.*899A>G | ENSP00000490034.1:n.*899A>G | |
| ENST00000635887.1:c.1247A>G | ENSP00000490709.1:p.Asp416Gly | |
| ENST00000635958.1:n.1654A>G | ||
| ENST00000636017.1:c.*771A>G | ENSP00000490538.1:n.*771A>G | |
| ENST00000636078.1:n.1369A>G | ||
| ENST00000636147.2:c.1247A>G MANE Select | ENSP00000490105.1:p.Asp416Gly | |
| ENST00000636172.1:c.*771A>G | ENSP00000490505.1:n.*771A>G | |
| ENST00000636228.1:c.941A>G | ENSP00000489627.1:p.Asp314Gly | |
| ENST00000636351.1:n.1141A>G | ||
| ENST00000636503.1:c.*277A>G | ENSP00000489824.1:n.*277A>G | |
| ENST00000636766.1:c.1247A>G | ENSP00000489841.1:p.Asp416Gly | |
| ENST00000636839.1:n.1743A>G | ||
| ENST00000636853.1:n.2260A>G | ||
| ENST00000636866.1:c.*42A>G | ENSP00000490880.1:n.*42A>G | |
| ENST00000636907.1:n.1398A>G | ||
| ENST00000636977.1:n.2739A>G | ||
| ENST00000637050.1:n.1636A>G | ||
| ENST00000637100.1:c.1006-3324A>G | ENSP00000490394.1:n.1006-3324A>G | |
| ENST00000637107.1:c.*771A>G | ENSP00000490248.1:n.*771A>G | |
| ENST00000637184.1:c.*277A>G | ENSP00000489952.1:n.*277A>G | |
| ENST00000637299.1:c.*1056A>G | ENSP00000489823.1:n.*1056A>G | |
| ENST00000637376.1:c.*277A>G | ENSP00000490758.1:n.*277A>G | |
| ENST00000637378.1:c.228+4519A>G | ENSP00000490831.1:n.228+4519A>G | |
| ENST00000637578.1:c.*771A>G | ENSP00000490206.1:n.*771A>G | |
| ENST00000637699.1:c.1158A>G | ENSP00000490049.1:n.1158A>G | |
| ENST00000637745.1:c.684A>G | ||
| ENST00000637871.1:c.*945A>G | ENSP00000490670.1:n.*945A>G | |
| ENST00000638036.1:c.409A>G | ||
| ENST00000333496.13:c.1175A>G | ENSP00000329171.9:p.Asp392Gly | |
| ENST00000355477.9:c.*484A>G | ENSP00000347660.6:n.*484A>G | |
| ENST00000357806.11:c.950A>G | ENSP00000350457.7:p.Asp317Gly | |
| ENST00000357857.13:c.1085A>G | ENSP00000350523.9:p.Asp362Gly | |
| ENST00000359984.11:c.941A>G | ENSP00000353073.8:p.Asp314Gly | |
| ENST00000360019.6:c.1247A>G | ENSP00000353116.2:p.Asp416Gly | |
| ENST00000395653.8:c.947A>G | ENSP00000379014.4:p.Asp316Gly | |
| ENST00000561689.5:n.1216A>G | ||
| ENST00000563874.5:n.2775A>G | ||
| ENST00000564091.5:c.336A>G | ||
| ENST00000565140.5:c.1155A>G | ENSP00000455342.1:n.1155A>G | |
| ENST00000565316.5:c.1196A>G | ENSP00000456117.1:p.Asp399Gly | |
| ENST00000565354.5:n.560A>G | ||
| ENST00000566057.5:c.861A>G | ENSP00000456693.1:n.861A>G | |
| ENST00000567963.5:c.956A>G | ENSP00000455387.1:p.Asp319Gly | |
| ENST00000568076.5:n.1158A>G | ||
| ENST00000568224.4:c.1013A>G | ENSP00000454253.1:p.Asp338Gly | |
| ENST00000568422.5:c.*484A>G | ENSP00000455549.1:n.*484A>G | |
| ENST00000568452.5:n.1375A>G | ||
| ENST00000569030.5:c.1039A>G | ENSP00000454680.1:n.1039A>G | |
| ENST00000569430.5:c.1247A>G | ENSP00000454229.1:p.Asp416Gly | |
| ENST00000628023.2:c.*543A>G | ENSP00000486178.1:n.*543A>G | |
| ENST00000631023.2:c.956A>G | ENSP00000486616.1:p.Asp319Gly | |
| NM_000086.2:c.1247A>G , LRG_689t1:c.1247A>G | NP_000077.1:p.Asp416Gly | |
| NM_001042432.1:c.1247A>G , LRG_689t2:c.1247A>G | NP_001035897.1:p.Asp416Gly | |
| NM_001286104.1:c.1175A>G | NP_001273033.1:p.Asp392Gly | |
| NM_001286105.1:c.947A>G | NP_001273034.1:p.Asp316Gly | |
| NM_001286109.1:c.1013A>G | NP_001273038.1:p.Asp338Gly | |
| NM_001286110.1:c.1085A>G | NP_001273039.1:p.Asp362Gly | |
| NM_001042432.2:c.1247A>G MANE Select | NP_001035897.1:p.Asp416Gly | |
| NM_001286104.2:c.1175A>G | NP_001273033.1:p.Asp392Gly | |
| NM_001286105.2:c.947A>G | NP_001273034.1:p.Asp316Gly | |
| NM_001286109.2:c.1013A>G | NP_001273038.1:p.Asp338Gly | |
| NM_001286110.2:c.1085A>G | NP_001273039.1:p.Asp362Gly |