Linked Data
ClinVar Variation Id:
215215
dbSNP Id:
rs372981030
ExAC:
16:89616913 A / T
gnomAD v2:
16-89616913-A-T
gnomAD v3:
16-89550505-A-T
gnomAD v4:
16-89550505-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89550505A>T , CM000678.2:g.89550505A>T | GRCh38 |
| NC_000016.9:g.89616913A>T , CM000678.1:g.89616913A>T | GRCh37 |
| NC_000016.8:g.88144414A>T | NCBI36 |
| NG_008082.1:g.47109A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.1654A>T | ENSP00000268704.3:p.Lys552Ter | |
| ENST00000561702.6:n.2347A>T | ||
| ENST00000566682.2:c.688A>T | ENSP00000461979.2:p.Lys230Ter | |
| ENST00000569820.6:c.1948A>T | ||
| ENST00000642226.1:n.1738A>T | ||
| ENST00000642334.1:c.3093A>T | ||
| ENST00000642814.1:n.1090A>T | ||
| ENST00000642984.1:n.1271A>T | ||
| ENST00000643105.1:c.2381A>T | ||
| ENST00000643350.1:n.1089A>T | ||
| ENST00000643409.1:n.2100A>T | ||
| ENST00000643496.1:n.1492A>T | ||
| ENST00000643649.1:c.1564A>T | ENSP00000494806.1:p.Lys522Ter | |
| ENST00000643668.1:c.*1969A>T | ENSP00000494903.1:n.*1969A>T | |
| ENST00000643724.1:c.*723A>T | ENSP00000496335.1:n.*723A>T | |
| ENST00000643954.1:c.2574A>T | ||
| ENST00000644171.1:n.2435A>T | ||
| ENST00000644210.1:c.*247A>T | ENSP00000495675.1:n.*247A>T | |
| ENST00000644225.1:n.1692A>T | ||
| ENST00000644464.1:n.328A>T | ||
| ENST00000644498.1:c.*1494A>T | ENSP00000496244.1:n.*1494A>T | |
| ENST00000644671.1:c.1332A>T | ||
| ENST00000644751.1:c.863A>T | ||
| ENST00000644781.1:c.1675A>T | ENSP00000495473.1:p.Lys559Ter | |
| ENST00000644901.1:c.*2069A>T | ENSP00000493797.1:n.*2069A>T | |
| ENST00000645042.1:c.*449A>T | ENSP00000493908.1:n.*449A>T | |
| ENST00000645063.1:c.1675A>T | ENSP00000493590.1:p.Lys559Ter | |
| ENST00000645354.1:c.2435A>T | ||
| ENST00000645392.1:n.2016A>T | ||
| ENST00000645742.1:n.309A>T | ||
| ENST00000645818.2:c.1675A>T MANE Select | ENSP00000495795.2:p.Lys559Ter | |
| ENST00000645842.1:n.1520A>T | ||
| ENST00000645886.1:c.1180A>T | ||
| ENST00000645897.1:c.1213A>T | ENSP00000495293.1:p.Lys405Ter | |
| ENST00000645952.1:n.1540A>T | ||
| ENST00000645977.1:n.2793A>T | ||
| ENST00000646005.1:n.1433A>T | ||
| ENST00000646263.1:c.*548A>T | ENSP00000494119.1:n.*548A>T | |
| ENST00000646303.1:c.1543A>T | ENSP00000494160.1:p.Lys515Ter | |
| ENST00000646399.1:c.2569A>T | ||
| ENST00000646445.1:c.533A>T | ||
| ENST00000646531.1:c.*298A>T | ENSP00000495185.1:n.*298A>T | |
| ENST00000646589.1:c.*803A>T | ENSP00000494739.1:n.*803A>T | |
| ENST00000646716.1:c.727A>T | ENSP00000495593.1:p.Lys243Ter | |
| ENST00000646826.1:c.*348A>T | ENSP00000495123.1:n.*348A>T | |
| ENST00000646930.1:c.*1604A>T | ENSP00000495219.1:n.*1604A>T | |
| ENST00000647032.1:c.1290A>T | ||
| ENST00000647079.1:c.1267A>T | ENSP00000495967.1:p.Lys423Ter | |
| ENST00000647123.1:n.1632A>T | ||
| ENST00000647227.1:c.1313A>T | ||
| ENST00000647302.1:n.2325A>T | ||
| ENST00000647476.1:n.562A>T | ||
| ENST00000647491.1:n.1419A>T | ||
| ENST00000268704.6:c.1675A>T | ENSP00000268704.2:p.Lys559Ter | |
| ENST00000561702.5:n.660A>T | ||
| ENST00000561911.5:c.220A>T | ENSP00000457387.1:p.Lys74Ter | |
| ENST00000565370.1:n.460A>T | ||
| ENST00000566221.5:c.529A>T | ||
| ENST00000569820.5:c.917A>T | ||
| ENST00000620811.4:c.450A>T | ENSP00000478030.1:p.Lys150Asn | |
| NM_003119.3:c.1675A>T | NP_003110.1:p.Lys559Ter | |
| XM_006721264.2:c.1675A>T | XP_006721327.1:p.Lys559Ter | |
| NM_001363850.1:c.1675A>T | NP_001350779.1:p.Lys559Ter | |
| XM_006721264.4:c.1675A>T | XP_006721327.1:p.Lys559Ter | |
| XR_001751971.2:n.2024A>T | ||
| XR_001751972.2:n.3311A>T | ||
| NM_003119.4:c.1675A>T MANE Select | NP_003110.1:p.Lys559Ter |