Linked Data
ClinVar Variation Id:
215189
dbSNP Id:
rs56031686
ExAC:
16:89614511 C / T
gnomAD v2:
16-89614511-C-T
gnomAD v3:
16-89548103-C-T
gnomAD v4:
16-89548103-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89548103C>T , CM000678.2:g.89548103C>T | GRCh38 |
| NC_000016.9:g.89614511C>T , CM000678.1:g.89614511C>T | GRCh37 |
| NC_000016.8:g.88142012C>T | NCBI36 |
| NG_008082.1:g.44707C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.1632C>T | ENSP00000268704.3:p.Arg544= | |
| ENST00000563218.6:n.712C>T | ||
| ENST00000566682.2:c.666C>T | ENSP00000461979.2:p.Arg222= | |
| ENST00000569820.6:c.639C>T | ||
| ENST00000642226.1:n.1502C>T | ||
| ENST00000642334.1:c.3071C>T | ||
| ENST00000642427.1:n.1053C>T | ||
| ENST00000642814.1:n.1068C>T | ||
| ENST00000642984.1:n.1249C>T | ||
| ENST00000643105.1:c.2359C>T | ||
| ENST00000643350.1:n.710C>T | ||
| ENST00000643409.1:n.2078C>T | ||
| ENST00000643496.1:n.1470C>T | ||
| ENST00000643649.1:c.1552+1343C>T | ENSP00000494806.1:n.1552+1343C>T | |
| ENST00000643668.1:c.*1947C>T | ENSP00000494903.1:n.*1947C>T | |
| ENST00000643724.1:c.*701C>T | ENSP00000496335.1:n.*701C>T | |
| ENST00000643734.1:n.4566C>T | ||
| ENST00000643954.1:c.2552C>T | ||
| ENST00000644171.1:n.2413C>T | ||
| ENST00000644210.1:c.*225C>T | ENSP00000495675.1:n.*225C>T | |
| ENST00000644225.1:n.1670C>T | ||
| ENST00000644464.1:n.306C>T | ||
| ENST00000644498.1:c.*1472C>T | ENSP00000496244.1:n.*1472C>T | |
| ENST00000644556.1:n.261-199C>T | ||
| ENST00000644671.1:c.1310C>T | ||
| ENST00000644748.1:n.6211C>T | ||
| ENST00000644751.1:c.852-2391C>T | ||
| ENST00000644781.1:c.1653C>T | ENSP00000495473.1:p.Arg551= | |
| ENST00000644901.1:c.*2047C>T | ENSP00000493797.1:n.*2047C>T | |
| ENST00000644930.1:n.2779C>T | ||
| ENST00000645042.1:c.*427C>T | ENSP00000493908.1:n.*427C>T | |
| ENST00000645063.1:c.1653C>T | ENSP00000493590.1:p.Arg551= | |
| ENST00000645354.1:c.2413C>T | ||
| ENST00000645392.1:n.1994C>T | ||
| ENST00000645742.1:n.287C>T | ||
| ENST00000645818.2:c.1653C>T MANE Select | ENSP00000495795.2:p.Arg551= | |
| ENST00000645842.1:n.1498C>T | ||
| ENST00000645886.1:c.1158C>T | ||
| ENST00000645897.1:c.1191C>T | ENSP00000495293.1:p.Arg397= | |
| ENST00000645944.1:n.1427C>T | ||
| ENST00000645952.1:n.1518C>T | ||
| ENST00000645977.1:n.2771C>T | ||
| ENST00000646005.1:n.1411C>T | ||
| ENST00000646263.1:c.*526C>T | ENSP00000494119.1:n.*526C>T | |
| ENST00000646303.1:c.1521C>T | ENSP00000494160.1:p.Arg507= | |
| ENST00000646399.1:c.2547C>T | ||
| ENST00000646445.1:c.511C>T | ||
| ENST00000646454.1:n.914C>T | ||
| ENST00000646531.1:c.*276C>T | ENSP00000495185.1:n.*276C>T | |
| ENST00000646543.1:n.2407C>T | ||
| ENST00000646589.1:c.*781C>T | ENSP00000494739.1:n.*781C>T | |
| ENST00000646716.1:c.705C>T | ENSP00000495593.1:p.Arg235= | |
| ENST00000646826.1:c.*326C>T | ENSP00000495123.1:n.*326C>T | |
| ENST00000646930.1:c.*1582C>T | ENSP00000495219.1:n.*1582C>T | |
| ENST00000646958.1:n.2698C>T | ||
| ENST00000647032.1:c.1268C>T | ||
| ENST00000647079.1:c.1245C>T | ENSP00000495967.1:p.Arg415= | |
| ENST00000647123.1:n.1610C>T | ||
| ENST00000647227.1:c.1291C>T | ||
| ENST00000647302.1:n.2303C>T | ||
| ENST00000647491.1:n.1397C>T | ||
| ENST00000268704.6:c.1653C>T | ENSP00000268704.2:p.Arg551= | |
| ENST00000561911.5:c.198C>T | ENSP00000457387.1:p.Arg66= | |
| ENST00000563218.5:n.379C>T | ||
| ENST00000566221.5:c.251C>T | ||
| ENST00000569820.5:c.538C>T | ||
| ENST00000620811.4:c.77C>T | ENSP00000478030.1:p.Ala26Val | |
| NM_003119.3:c.1653C>T | NP_003110.1:p.Arg551= | |
| XM_006721264.2:c.1653C>T | XP_006721327.1:p.Arg551= | |
| NM_001363850.1:c.1653C>T | NP_001350779.1:p.Arg551= | |
| XM_006721264.4:c.1653C>T | XP_006721327.1:p.Arg551= | |
| XM_017023597.1:c.1653C>T | XP_016879086.1:p.Arg551= | |
| XM_017023598.1:c.1653C>T | XP_016879087.1:p.Arg551= | |
| XR_001751971.2:n.2002C>T | ||
| XR_001751972.2:n.2002C>T | ||
| NM_003119.4:c.1653C>T MANE Select | NP_003110.1:p.Arg551= |