Linked Data
dbSNP Id:
rs1261574578
gnomAD v2:
16-28493435-G-A
gnomAD v3:
16-28482114-G-A
gnomAD v4:
16-28482114-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28482114G>A , CM000678.2:g.28482114G>A | GRCh38 |
| NC_000016.9:g.28493435G>A , CM000678.1:g.28493435G>A | GRCh37 |
| NC_000016.8:g.28400936G>A | NCBI36 |
| NG_008654.2:g.15189C>T , LRG_689:g.15189C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.975C>T | ENSP00000329171.9:p.Ala325= | |
| ENST00000355477.10:c.903C>T | ENSP00000347660.7:p.Ala301= | |
| ENST00000357857.14:c.885C>T | ENSP00000350523.9:p.Ala295= | |
| ENST00000359984.12:c.1047C>T | ENSP00000353073.9:p.Ala349= | |
| ENST00000360019.8:c.975C>T | ENSP00000353116.3:p.Ala325= | |
| ENST00000395653.9:c.588C>T | ENSP00000379014.5:p.Ala196= | |
| ENST00000561689.6:n.1460C>T | ||
| ENST00000564091.6:c.387C>T | ENSP00000454466.2:p.Ala129= | |
| ENST00000565316.6:c.996C>T | ENSP00000456117.1:p.Ala332= | |
| ENST00000566824.6:n.1107C>T | ||
| ENST00000567963.6:c.885C>T | ENSP00000455387.2:p.Ala295= | |
| ENST00000568076.6:n.1476C>T | ||
| ENST00000568422.6:c.*284C>T | ENSP00000455549.2:n.*284C>T | |
| ENST00000568452.6:n.1278C>T | ||
| ENST00000568497.6:c.78C>T | ENSP00000456414.2:p.Ala26= | |
| ENST00000569430.7:c.1047C>T | ENSP00000454229.1:p.Ala349= | |
| ENST00000628023.3:c.*343C>T | ENSP00000486178.1:n.*343C>T | |
| ENST00000635861.1:c.*699C>T | ENSP00000490034.1:n.*699C>T | |
| ENST00000635887.1:c.1047C>T | ENSP00000490709.1:p.Ala349= | |
| ENST00000635958.1:n.1332C>T | ||
| ENST00000635973.1:c.798C>T | ENSP00000490363.1:p.Ala266= | |
| ENST00000636017.1:c.*571C>T | ENSP00000490538.1:n.*571C>T | |
| ENST00000636078.1:n.1169C>T | ||
| ENST00000636147.2:c.1047C>T MANE Select | ENSP00000490105.1:p.Ala349= | |
| ENST00000636172.1:c.*571C>T | ENSP00000490505.1:n.*571C>T | |
| ENST00000636228.1:c.741C>T | ENSP00000489627.1:p.Ala247= | |
| ENST00000636351.1:n.941C>T | ||
| ENST00000636503.1:c.1047C>T | ENSP00000489824.1:p.Ala349= | |
| ENST00000636685.1:n.728C>T | ||
| ENST00000636766.1:c.1047C>T | ENSP00000489841.1:p.Ala349= | |
| ENST00000636839.1:n.1421C>T | ||
| ENST00000636853.1:n.1962C>T | ||
| ENST00000636866.1:c.1047C>T | ENSP00000490880.1:p.Ala349= | |
| ENST00000636907.1:n.1198C>T | ||
| ENST00000636977.1:n.2417C>T | ||
| ENST00000637050.1:n.1436C>T | ||
| ENST00000637100.1:c.996C>T | ENSP00000490394.1:p.Ala332= | |
| ENST00000637107.1:c.*571C>T | ENSP00000490248.1:n.*571C>T | |
| ENST00000637184.1:c.1047C>T | ENSP00000489952.1:p.Ala349= | |
| ENST00000637299.1:c.*856C>T | ENSP00000489823.1:n.*856C>T | |
| ENST00000637376.1:c.1047C>T | ENSP00000490758.1:p.Ala349= | |
| ENST00000637378.1:c.219C>T | ENSP00000490831.1:p.Ala73= | |
| ENST00000637578.1:c.*571C>T | ENSP00000490206.1:n.*571C>T | |
| ENST00000637699.1:c.958C>T | ENSP00000490049.1:n.958C>T | |
| ENST00000637745.1:c.386C>T | ||
| ENST00000637871.1:c.*745C>T | ENSP00000490670.1:n.*745C>T | |
| ENST00000638036.1:c.209C>T | ||
| ENST00000333496.13:c.975C>T | ENSP00000329171.9:p.Ala325= | |
| ENST00000355477.9:c.*284C>T | ENSP00000347660.6:n.*284C>T | |
| ENST00000357806.11:c.750C>T | ENSP00000350457.7:p.Ala250= | |
| ENST00000357857.13:c.885C>T | ENSP00000350523.9:p.Ala295= | |
| ENST00000359984.11:c.741C>T | ENSP00000353073.8:p.Ala247= | |
| ENST00000360019.6:c.1047C>T | ENSP00000353116.2:p.Ala349= | |
| ENST00000395653.8:c.747C>T | ENSP00000379014.4:p.Ala249= | |
| ENST00000561689.5:n.1016C>T | ||
| ENST00000563874.5:n.2575C>T | ||
| ENST00000564091.5:c.136C>T | ||
| ENST00000565140.5:c.830C>T | ENSP00000455342.1:n.830C>T | |
| ENST00000565316.5:c.996C>T | ENSP00000456117.1:p.Ala332= | |
| ENST00000565354.5:n.360C>T | ||
| ENST00000566057.5:c.661C>T | ENSP00000456693.1:n.661C>T | |
| ENST00000567963.5:c.906+363C>T | ENSP00000455387.1:n.906+363C>T | |
| ENST00000568076.5:n.958C>T | ||
| ENST00000568224.4:c.813C>T | ENSP00000454253.1:p.Ala271= | |
| ENST00000568422.5:c.*284C>T | ENSP00000455549.1:n.*284C>T | |
| ENST00000568452.5:n.1175C>T | ||
| ENST00000569030.5:c.717C>T | ENSP00000454680.1:p.Ala239= | |
| ENST00000569430.5:c.1047C>T | ENSP00000454229.1:p.Ala349= | |
| ENST00000628023.2:c.*343C>T | ENSP00000486178.1:n.*343C>T | |
| ENST00000631023.2:c.906+363C>T | ENSP00000486616.1:n.906+363C>T | |
| NM_000086.2:c.1047C>T , LRG_689t1:c.1047C>T | NP_000077.1:p.Ala349= | |
| NM_001042432.1:c.1047C>T , LRG_689t2:c.1047C>T | NP_001035897.1:p.Ala349= | |
| NM_001286104.1:c.975C>T | NP_001273033.1:p.Ala325= | |
| NM_001286105.1:c.747C>T | NP_001273034.1:p.Ala249= | |
| NM_001286109.1:c.813C>T | NP_001273038.1:p.Ala271= | |
| NM_001286110.1:c.885C>T | NP_001273039.1:p.Ala295= | |
| NM_001042432.2:c.1047C>T MANE Select | NP_001035897.1:p.Ala349= | |
| NM_001286104.2:c.975C>T | NP_001273033.1:p.Ala325= | |
| NM_001286105.2:c.747C>T | NP_001273034.1:p.Ala249= | |
| NM_001286109.2:c.813C>T | NP_001273038.1:p.Ala271= | |
| NM_001286110.2:c.885C>T | NP_001273039.1:p.Ala295= |