Linked Data
ClinVar Variation Id:
280575
dbSNP Id:
rs764791523
ExAC:
16:89592797 C / T
gnomAD v2:
16-89592797-C-T
gnomAD v3:
16-89526389-C-T
gnomAD v4:
16-89526389-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89526389C>T , CM000678.2:g.89526389C>T | GRCh38 |
| NC_000016.9:g.89592797C>T , CM000678.1:g.89592797C>T | GRCh37 |
| NC_000016.8:g.88120298C>T | NCBI36 |
| NG_008082.1:g.22993C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.679C>T | ENSP00000268704.3:p.Arg227Ter | |
| ENST00000562775.2:n.543C>T | ||
| ENST00000564047.2:n.688C>T | ||
| ENST00000564409.2:c.448C>T | ENSP00000495297.1:p.Arg150Ter | |
| ENST00000566371.6:c.618+2142C>T | ENSP00000454475.2:n.618+2142C>T | |
| ENST00000642334.1:c.552C>T | ||
| ENST00000642371.1:c.550+2142C>T | ||
| ENST00000642427.1:n.79C>T | ||
| ENST00000642436.1:n.388+13352C>T | ||
| ENST00000643105.1:c.599C>T | ||
| ENST00000643178.1:n.327C>T | ||
| ENST00000643307.1:c.679C>T | ENSP00000495673.1:p.Arg227Ter | |
| ENST00000643345.1:c.377-2746C>T | ENSP00000493982.1:n.377-2746C>T | |
| ENST00000643370.1:c.16C>T | ENSP00000494895.1:p.Arg6Ter | |
| ENST00000643496.1:n.496C>T | ||
| ENST00000643649.1:c.679C>T | ENSP00000494806.1:p.Arg227Ter | |
| ENST00000643668.1:c.*707C>T | ENSP00000494903.1:n.*707C>T | |
| ENST00000643724.1:c.679C>T | ENSP00000496335.1:p.Arg227Ter | |
| ENST00000643954.1:c.417C>T | ||
| ENST00000643957.1:c.840C>T | ENSP00000494246.1:n.840C>T | |
| ENST00000644210.1:c.679C>T | ENSP00000495675.1:p.Arg227Ter | |
| ENST00000644225.1:n.696C>T | ||
| ENST00000644498.1:c.679C>T | ENSP00000496244.1:p.Arg227Ter | |
| ENST00000644671.1:c.342C>T | ||
| ENST00000644748.1:n.2110C>T | ||
| ENST00000644751.1:c.81C>T | ||
| ENST00000644781.1:c.679C>T | ENSP00000495473.1:p.Arg227Ter | |
| ENST00000644901.1:c.679C>T | ENSP00000493797.1:p.Arg227Ter | |
| ENST00000645042.1:c.679C>T | ENSP00000493908.1:p.Arg227Ter | |
| ENST00000645063.1:c.679C>T | ENSP00000493590.1:p.Arg227Ter | |
| ENST00000645354.1:c.594C>T | ||
| ENST00000645533.1:c.679C>T | ENSP00000495690.1:p.Arg227Ter | |
| ENST00000645818.2:c.679C>T MANE Select | ENSP00000495795.2:p.Arg227Ter | |
| ENST00000645897.1:c.679C>T | ENSP00000495293.1:p.Arg227Ter | |
| ENST00000645977.1:n.694C>T | ||
| ENST00000646263.1:c.679C>T | ENSP00000494119.1:p.Arg227Ter | |
| ENST00000646303.1:c.547C>T | ENSP00000494160.1:p.Arg183Ter | |
| ENST00000646399.1:c.362C>T | ||
| ENST00000646445.1:c.182+13352C>T | ||
| ENST00000646531.1:c.679C>T | ENSP00000495185.1:p.Arg227Ter | |
| ENST00000646589.1:c.377-4294C>T | ENSP00000494739.1:n.377-4294C>T | |
| ENST00000646716.1:c.376+13352C>T | ENSP00000495593.1:n.376+13352C>T | |
| ENST00000646826.1:c.679C>T | ENSP00000495123.1:p.Arg227Ter | |
| ENST00000646930.1:c.679C>T | ENSP00000495219.1:p.Arg227Ter | |
| ENST00000646958.1:n.629C>T | ||
| ENST00000647032.1:c.294C>T | ||
| ENST00000647079.1:c.271C>T | ENSP00000495967.1:p.Arg91Ter | |
| ENST00000647227.1:c.442C>T | ||
| ENST00000268704.6:c.679C>T | ENSP00000268704.2:p.Arg227Ter | |
| ENST00000341316.6:c.679C>T | ENSP00000341157.2:p.Arg227Ter | |
| ENST00000562775.1:n.1589C>T | ||
| ENST00000564047.1:n.105C>T | ||
| ENST00000620811.4:c.-898C>T | ENSP00000478030.1:n.-898C>T | |
| NM_003119.3:c.679C>T | NP_003110.1:p.Arg227Ter | |
| NM_199367.2:c.679C>T | NP_955399.1:p.Arg227Ter | |
| XM_005256321.3:c.679C>T | XP_005256378.1:p.Arg227Ter | |
| XM_006721264.2:c.679C>T | XP_006721327.1:p.Arg227Ter | |
| XM_011523306.1:c.679C>T | XP_011521608.1:p.Arg227Ter | |
| XM_011523307.1:c.679C>T | XP_011521609.1:p.Arg227Ter | |
| NM_001363850.1:c.679C>T | NP_001350779.1:p.Arg227Ter | |
| XM_005256321.4:c.679C>T | XP_005256378.1:p.Arg227Ter | |
| XM_006721264.4:c.679C>T | XP_006721327.1:p.Arg227Ter | |
| XM_017023597.1:c.679C>T | XP_016879086.1:p.Arg227Ter | |
| XM_017023598.1:c.679C>T | XP_016879087.1:p.Arg227Ter | |
| XR_001751971.2:n.718C>T | ||
| XR_001751972.2:n.718C>T | ||
| NM_003119.4:c.679C>T MANE Select | NP_003110.1:p.Arg227Ter | |
| NM_199367.3:c.679C>T | NP_955399.1:p.Arg227Ter |