Linked Data
dbSNP Id:
rs765157752
ExAC:
16:28493478 G / C
gnomAD v2:
16-28493478-G-C
gnomAD v4:
16-28482157-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28482157G>C , CM000678.2:g.28482157G>C | GRCh38 |
| NC_000016.9:g.28493478G>C , CM000678.1:g.28493478G>C | GRCh37 |
| NC_000016.8:g.28400979G>C | NCBI36 |
| NG_008654.2:g.15146C>G , LRG_689:g.15146C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.932C>G | ENSP00000329171.9:p.Ser311Cys | |
| ENST00000355477.10:c.860C>G | ENSP00000347660.7:p.Ser287Cys | |
| ENST00000357857.14:c.842C>G | ENSP00000350523.9:p.Ser281Cys | |
| ENST00000359984.12:c.1004C>G | ENSP00000353073.9:p.Ser335Cys | |
| ENST00000360019.8:c.932C>G | ENSP00000353116.3:p.Ser311Cys | |
| ENST00000395653.9:c.545C>G | ENSP00000379014.5:p.Ser182Cys | |
| ENST00000561689.6:n.1417C>G | ||
| ENST00000564091.6:c.344C>G | ENSP00000454466.2:p.Ser115Cys | |
| ENST00000565316.6:c.953C>G | ENSP00000456117.1:p.Ser318Cys | |
| ENST00000566824.6:n.1064C>G | ||
| ENST00000567963.6:c.842C>G | ENSP00000455387.2:p.Ser281Cys | |
| ENST00000568076.6:n.1433C>G | ||
| ENST00000568422.6:c.*241C>G | ENSP00000455549.2:n.*241C>G | |
| ENST00000568452.6:n.1235C>G | ||
| ENST00000568497.6:c.35C>G | ENSP00000456414.2:p.Ser12Cys | |
| ENST00000569430.7:c.1004C>G | ENSP00000454229.1:p.Ser335Cys | |
| ENST00000628023.3:c.*300C>G | ENSP00000486178.1:n.*300C>G | |
| ENST00000635861.1:c.*656C>G | ENSP00000490034.1:n.*656C>G | |
| ENST00000635887.1:c.1004C>G | ENSP00000490709.1:p.Ser335Cys | |
| ENST00000635958.1:n.1289C>G | ||
| ENST00000635973.1:c.755C>G | ENSP00000490363.1:p.Ser252Cys | |
| ENST00000636017.1:c.*528C>G | ENSP00000490538.1:n.*528C>G | |
| ENST00000636078.1:n.1126C>G | ||
| ENST00000636147.2:c.1004C>G MANE Select | ENSP00000490105.1:p.Ser335Cys | |
| ENST00000636172.1:c.*528C>G | ENSP00000490505.1:n.*528C>G | |
| ENST00000636228.1:c.698C>G | ENSP00000489627.1:p.Ser233Cys | |
| ENST00000636351.1:n.898C>G | ||
| ENST00000636503.1:c.1004C>G | ENSP00000489824.1:p.Ser335Cys | |
| ENST00000636685.1:n.685C>G | ||
| ENST00000636766.1:c.1004C>G | ENSP00000489841.1:p.Ser335Cys | |
| ENST00000636839.1:n.1378C>G | ||
| ENST00000636853.1:n.1919C>G | ||
| ENST00000636866.1:c.1004C>G | ENSP00000490880.1:p.Ser335Cys | |
| ENST00000636907.1:n.1155C>G | ||
| ENST00000636977.1:n.2374C>G | ||
| ENST00000637050.1:n.1393C>G | ||
| ENST00000637100.1:c.953C>G | ENSP00000490394.1:p.Ser318Cys | |
| ENST00000637107.1:c.*528C>G | ENSP00000490248.1:n.*528C>G | |
| ENST00000637184.1:c.1004C>G | ENSP00000489952.1:p.Ser335Cys | |
| ENST00000637299.1:c.*813C>G | ENSP00000489823.1:n.*813C>G | |
| ENST00000637376.1:c.1004C>G | ENSP00000490758.1:p.Ser335Cys | |
| ENST00000637378.1:c.176C>G | ENSP00000490831.1:p.Ser59Cys | |
| ENST00000637578.1:c.*528C>G | ENSP00000490206.1:n.*528C>G | |
| ENST00000637699.1:c.915C>G | ENSP00000490049.1:n.915C>G | |
| ENST00000637745.1:c.343C>G | ||
| ENST00000637871.1:c.*702C>G | ENSP00000490670.1:n.*702C>G | |
| ENST00000638036.1:c.166C>G | ||
| ENST00000333496.13:c.932C>G | ENSP00000329171.9:p.Ser311Cys | |
| ENST00000355477.9:c.*241C>G | ENSP00000347660.6:n.*241C>G | |
| ENST00000357806.11:c.707C>G | ENSP00000350457.7:p.Ser236Cys | |
| ENST00000357857.13:c.842C>G | ENSP00000350523.9:p.Ser281Cys | |
| ENST00000359984.11:c.698C>G | ENSP00000353073.8:p.Ser233Cys | |
| ENST00000360019.6:c.1004C>G | ENSP00000353116.2:p.Ser335Cys | |
| ENST00000395653.8:c.704C>G | ENSP00000379014.4:p.Ser235Cys | |
| ENST00000561689.5:n.973C>G | ||
| ENST00000563874.5:n.2532C>G | ||
| ENST00000564091.5:c.93C>G | ||
| ENST00000565140.5:c.787C>G | ENSP00000455342.1:n.787C>G | |
| ENST00000565316.5:c.953C>G | ENSP00000456117.1:p.Ser318Cys | |
| ENST00000565354.5:n.317C>G | ||
| ENST00000566057.5:c.618C>G | ENSP00000456693.1:n.618C>G | |
| ENST00000567963.5:c.906+320C>G | ENSP00000455387.1:n.906+320C>G | |
| ENST00000568076.5:n.915C>G | ||
| ENST00000568224.4:c.770C>G | ENSP00000454253.1:p.Ser257Cys | |
| ENST00000568422.5:c.*241C>G | ENSP00000455549.1:n.*241C>G | |
| ENST00000568452.5:n.1132C>G | ||
| ENST00000568558.5:c.545C>G | ENSP00000455603.1:p.Ser182Cys | |
| ENST00000569030.5:c.674C>G | ENSP00000454680.1:p.Ser225Cys | |
| ENST00000569430.5:c.1004C>G | ENSP00000454229.1:p.Ser335Cys | |
| ENST00000628023.2:c.*300C>G | ENSP00000486178.1:n.*300C>G | |
| ENST00000631023.2:c.906+320C>G | ENSP00000486616.1:n.906+320C>G | |
| NM_000086.2:c.1004C>G , LRG_689t1:c.1004C>G | NP_000077.1:p.Ser335Cys | |
| NM_001042432.1:c.1004C>G , LRG_689t2:c.1004C>G | NP_001035897.1:p.Ser335Cys | |
| NM_001286104.1:c.932C>G | NP_001273033.1:p.Ser311Cys | |
| NM_001286105.1:c.704C>G | NP_001273034.1:p.Ser235Cys | |
| NM_001286109.1:c.770C>G | NP_001273038.1:p.Ser257Cys | |
| NM_001286110.1:c.842C>G | NP_001273039.1:p.Ser281Cys | |
| NM_001042432.2:c.1004C>G MANE Select | NP_001035897.1:p.Ser335Cys | |
| NM_001286104.2:c.932C>G | NP_001273033.1:p.Ser311Cys | |
| NM_001286105.2:c.704C>G | NP_001273034.1:p.Ser235Cys | |
| NM_001286109.2:c.770C>G | NP_001273038.1:p.Ser257Cys | |
| NM_001286110.2:c.842C>G | NP_001273039.1:p.Ser281Cys |