Linked Data
ClinVar Variation Id:
488804
dbSNP Id:
rs138671904
ExAC:
16:89611100 C / T
gnomAD v2:
16-89611100-C-T
gnomAD v3:
16-89544692-C-T
gnomAD v4:
16-89544692-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89544692C>T , CM000678.2:g.89544692C>T | GRCh38 |
| NC_000016.9:g.89611100C>T , CM000678.1:g.89611100C>T | GRCh37 |
| NC_000016.8:g.88138601C>T | NCBI36 |
| NG_008082.1:g.41296C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.1348C>T | ENSP00000268704.3:p.Arg450Ter | |
| ENST00000561945.2:n.514C>T | ||
| ENST00000566682.2:c.382C>T | ENSP00000461979.2:p.Arg128Ter | |
| ENST00000569820.6:c.45C>T | ||
| ENST00000642226.1:n.1003C>T | ||
| ENST00000642263.1:n.120C>T | ||
| ENST00000642334.1:c.2578C>T | ||
| ENST00000642427.1:n.769C>T | ||
| ENST00000642814.1:n.784C>T | ||
| ENST00000642984.1:n.965C>T | ||
| ENST00000643105.1:c.1289C>T | ||
| ENST00000643345.1:c.*893C>T | ENSP00000493982.1:n.*893C>T | |
| ENST00000643350.1:n.217C>T | ||
| ENST00000643370.1:c.543C>T | ENSP00000494895.1:n.543C>T | |
| ENST00000643409.1:n.1008C>T | ||
| ENST00000643496.1:n.1186C>T | ||
| ENST00000643649.1:c.1369C>T | ENSP00000494806.1:p.Arg457Ter | |
| ENST00000643668.1:c.*1663C>T | ENSP00000494903.1:n.*1663C>T | |
| ENST00000643724.1:c.*498-1966C>T | ENSP00000496335.1:n.*498-1966C>T | |
| ENST00000643734.1:n.4282C>T | ||
| ENST00000643954.1:c.2268C>T | ||
| ENST00000644044.1:c.463C>T | ||
| ENST00000644061.1:n.327C>T | ||
| ENST00000644171.1:n.1343C>T | ||
| ENST00000644210.1:c.1369C>T | ENSP00000495675.1:p.Arg457Ter | |
| ENST00000644225.1:n.1386C>T | ||
| ENST00000644498.1:c.*1188C>T | ENSP00000496244.1:n.*1188C>T | |
| ENST00000644556.1:n.260+3420C>T | ||
| ENST00000644671.1:c.1026C>T | ||
| ENST00000644748.1:n.2800C>T | ||
| ENST00000644751.1:c.771C>T | ||
| ENST00000644781.1:c.1369C>T | ENSP00000495473.1:p.Arg457Ter | |
| ENST00000644901.1:c.*1763C>T | ENSP00000493797.1:n.*1763C>T | |
| ENST00000644930.1:n.1709C>T | ||
| ENST00000645042.1:c.1369C>T | ENSP00000493908.1:p.Arg457Ter | |
| ENST00000645063.1:c.1369C>T | ENSP00000493590.1:p.Arg457Ter | |
| ENST00000645258.1:c.703C>T | ||
| ENST00000645354.1:c.2129C>T | ||
| ENST00000645392.1:n.1710C>T | ||
| ENST00000645818.2:c.1369C>T MANE Select | ENSP00000495795.2:p.Arg457Ter | |
| ENST00000645842.1:n.1005C>T | ||
| ENST00000645886.1:c.874C>T | ||
| ENST00000645897.1:c.988-1966C>T | ENSP00000495293.1:n.988-1966C>T | |
| ENST00000645944.1:n.833C>T | ||
| ENST00000645952.1:n.924C>T | ||
| ENST00000645977.1:n.2487C>T | ||
| ENST00000646005.1:n.1003C>T | ||
| ENST00000646263.1:c.*83C>T | ENSP00000494119.1:n.*83C>T | |
| ENST00000646303.1:c.1237C>T | ENSP00000494160.1:p.Arg413Ter | |
| ENST00000646399.1:c.2263C>T | ||
| ENST00000646445.1:c.227C>T | ||
| ENST00000646454.1:n.711-1966C>T | ||
| ENST00000646531.1:c.1369C>T | ENSP00000495185.1:p.Arg457Ter | |
| ENST00000646543.1:n.714C>T | ||
| ENST00000646589.1:c.*497C>T | ENSP00000494739.1:n.*497C>T | |
| ENST00000646716.1:c.421C>T | ENSP00000495593.1:p.Arg141Ter | |
| ENST00000646826.1:c.1369C>T | ENSP00000495123.1:p.Arg457Ter | |
| ENST00000646930.1:c.*1139C>T | ENSP00000495219.1:n.*1139C>T | |
| ENST00000646958.1:n.2414C>T | ||
| ENST00000647032.1:c.984C>T | ||
| ENST00000647079.1:c.961C>T | ENSP00000495967.1:p.Arg321Ter | |
| ENST00000647123.1:n.1117C>T | ||
| ENST00000647227.1:c.1088-1966C>T | ||
| ENST00000647302.1:n.1709C>T | ||
| ENST00000647491.1:n.954C>T | ||
| ENST00000268704.6:c.1369C>T | ENSP00000268704.2:p.Arg457Ter | |
| ENST00000563218.5:n.95C>T | ||
| ENST00000569820.5:c.45C>T | ||
| ENST00000620811.4:c.-208C>T | ENSP00000478030.1:n.-208C>T | |
| NM_003119.3:c.1369C>T | NP_003110.1:p.Arg457Ter | |
| XM_006721264.2:c.1369C>T | XP_006721327.1:p.Arg457Ter | |
| XM_011523306.1:c.1369C>T | XP_011521608.1:p.Arg457Ter | |
| NM_001363850.1:c.1369C>T | NP_001350779.1:p.Arg457Ter | |
| XM_006721264.4:c.1369C>T | XP_006721327.1:p.Arg457Ter | |
| XM_017023597.1:c.1369C>T | XP_016879086.1:p.Arg457Ter | |
| XM_017023598.1:c.1369C>T | XP_016879087.1:p.Arg457Ter | |
| XR_001751971.2:n.1408C>T | ||
| XR_001751972.2:n.1408C>T | ||
| NM_003119.4:c.1369C>T MANE Select | NP_003110.1:p.Arg457Ter |