Linked Data
dbSNP Id:
rs150986176
ExAC:
16:28493449 T / G
gnomAD v2:
16-28493449-T-G
gnomAD v4:
16-28482128-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28482128T>G , CM000678.2:g.28482128T>G | GRCh38 |
| NC_000016.9:g.28493449T>G , CM000678.1:g.28493449T>G | GRCh37 |
| NC_000016.8:g.28400950T>G | NCBI36 |
| NG_008654.2:g.15175A>C , LRG_689:g.15175A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.961A>C | ENSP00000329171.9:p.Thr321Pro | |
| ENST00000355477.10:c.889A>C | ENSP00000347660.7:p.Thr297Pro | |
| ENST00000357857.14:c.871A>C | ENSP00000350523.9:p.Thr291Pro | |
| ENST00000359984.12:c.1033A>C | ENSP00000353073.9:p.Thr345Pro | |
| ENST00000360019.8:c.961A>C | ENSP00000353116.3:p.Thr321Pro | |
| ENST00000395653.9:c.574A>C | ENSP00000379014.5:p.Thr192Pro | |
| ENST00000561689.6:n.1446A>C | ||
| ENST00000564091.6:c.373A>C | ENSP00000454466.2:p.Thr125Pro | |
| ENST00000565316.6:c.982A>C | ENSP00000456117.1:p.Thr328Pro | |
| ENST00000566824.6:n.1093A>C | ||
| ENST00000567963.6:c.871A>C | ENSP00000455387.2:p.Thr291Pro | |
| ENST00000568076.6:n.1462A>C | ||
| ENST00000568422.6:c.*270A>C | ENSP00000455549.2:n.*270A>C | |
| ENST00000568452.6:n.1264A>C | ||
| ENST00000568497.6:c.64A>C | ENSP00000456414.2:p.Thr22Pro | |
| ENST00000569430.7:c.1033A>C | ENSP00000454229.1:p.Thr345Pro | |
| ENST00000628023.3:c.*329A>C | ENSP00000486178.1:n.*329A>C | |
| ENST00000635861.1:c.*685A>C | ENSP00000490034.1:n.*685A>C | |
| ENST00000635887.1:c.1033A>C | ENSP00000490709.1:p.Thr345Pro | |
| ENST00000635958.1:n.1318A>C | ||
| ENST00000635973.1:c.784A>C | ENSP00000490363.1:p.Thr262Pro | |
| ENST00000636017.1:c.*557A>C | ENSP00000490538.1:n.*557A>C | |
| ENST00000636078.1:n.1155A>C | ||
| ENST00000636147.2:c.1033A>C MANE Select | ENSP00000490105.1:p.Thr345Pro | |
| ENST00000636172.1:c.*557A>C | ENSP00000490505.1:n.*557A>C | |
| ENST00000636228.1:c.727A>C | ENSP00000489627.1:p.Thr243Pro | |
| ENST00000636351.1:n.927A>C | ||
| ENST00000636503.1:c.1033A>C | ENSP00000489824.1:p.Thr345Pro | |
| ENST00000636685.1:n.714A>C | ||
| ENST00000636766.1:c.1033A>C | ENSP00000489841.1:p.Thr345Pro | |
| ENST00000636839.1:n.1407A>C | ||
| ENST00000636853.1:n.1948A>C | ||
| ENST00000636866.1:c.1033A>C | ENSP00000490880.1:p.Thr345Pro | |
| ENST00000636907.1:n.1184A>C | ||
| ENST00000636977.1:n.2403A>C | ||
| ENST00000637050.1:n.1422A>C | ||
| ENST00000637100.1:c.982A>C | ENSP00000490394.1:p.Thr328Pro | |
| ENST00000637107.1:c.*557A>C | ENSP00000490248.1:n.*557A>C | |
| ENST00000637184.1:c.1033A>C | ENSP00000489952.1:p.Thr345Pro | |
| ENST00000637299.1:c.*842A>C | ENSP00000489823.1:n.*842A>C | |
| ENST00000637376.1:c.1033A>C | ENSP00000490758.1:p.Thr345Pro | |
| ENST00000637378.1:c.205A>C | ENSP00000490831.1:p.Thr69Pro | |
| ENST00000637578.1:c.*557A>C | ENSP00000490206.1:n.*557A>C | |
| ENST00000637699.1:c.944A>C | ENSP00000490049.1:n.944A>C | |
| ENST00000637745.1:c.372A>C | ||
| ENST00000637871.1:c.*731A>C | ENSP00000490670.1:n.*731A>C | |
| ENST00000638036.1:c.195A>C | ||
| ENST00000333496.13:c.961A>C | ENSP00000329171.9:p.Thr321Pro | |
| ENST00000355477.9:c.*270A>C | ENSP00000347660.6:n.*270A>C | |
| ENST00000357806.11:c.736A>C | ENSP00000350457.7:p.Thr246Pro | |
| ENST00000357857.13:c.871A>C | ENSP00000350523.9:p.Thr291Pro | |
| ENST00000359984.11:c.727A>C | ENSP00000353073.8:p.Thr243Pro | |
| ENST00000360019.6:c.1033A>C | ENSP00000353116.2:p.Thr345Pro | |
| ENST00000395653.8:c.733A>C | ENSP00000379014.4:p.Thr245Pro | |
| ENST00000561689.5:n.1002A>C | ||
| ENST00000563874.5:n.2561A>C | ||
| ENST00000564091.5:c.122A>C | ||
| ENST00000565140.5:c.816A>C | ENSP00000455342.1:n.816A>C | |
| ENST00000565316.5:c.982A>C | ENSP00000456117.1:p.Thr328Pro | |
| ENST00000565354.5:n.346A>C | ||
| ENST00000566057.5:c.647A>C | ENSP00000456693.1:n.647A>C | |
| ENST00000567963.5:c.906+349A>C | ENSP00000455387.1:n.906+349A>C | |
| ENST00000568076.5:n.944A>C | ||
| ENST00000568224.4:c.799A>C | ENSP00000454253.1:p.Thr267Pro | |
| ENST00000568422.5:c.*270A>C | ENSP00000455549.1:n.*270A>C | |
| ENST00000568452.5:n.1161A>C | ||
| ENST00000569030.5:c.703A>C | ENSP00000454680.1:p.Thr235Pro | |
| ENST00000569430.5:c.1033A>C | ENSP00000454229.1:p.Thr345Pro | |
| ENST00000628023.2:c.*329A>C | ENSP00000486178.1:n.*329A>C | |
| ENST00000631023.2:c.906+349A>C | ENSP00000486616.1:n.906+349A>C | |
| NM_000086.2:c.1033A>C , LRG_689t1:c.1033A>C | NP_000077.1:p.Thr345Pro | |
| NM_001042432.1:c.1033A>C , LRG_689t2:c.1033A>C | NP_001035897.1:p.Thr345Pro | |
| NM_001286104.1:c.961A>C | NP_001273033.1:p.Thr321Pro | |
| NM_001286105.1:c.733A>C | NP_001273034.1:p.Thr245Pro | |
| NM_001286109.1:c.799A>C | NP_001273038.1:p.Thr267Pro | |
| NM_001286110.1:c.871A>C | NP_001273039.1:p.Thr291Pro | |
| NM_001042432.2:c.1033A>C MANE Select | NP_001035897.1:p.Thr345Pro | |
| NM_001286104.2:c.961A>C | NP_001273033.1:p.Thr321Pro | |
| NM_001286105.2:c.733A>C | NP_001273034.1:p.Thr245Pro | |
| NM_001286109.2:c.799A>C | NP_001273038.1:p.Thr267Pro | |
| NM_001286110.2:c.871A>C | NP_001273039.1:p.Thr291Pro |