Linked Data
ClinVar Variation Id:
188276
dbSNP Id:
rs369227537
ExAC:
16:89616910 A / T
gnomAD v2:
16-89616910-A-T
gnomAD v3:
16-89550502-A-T
gnomAD v4:
16-89550502-A-T
PubMed:
PMID:28812649
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89550502A>T , CM000678.2:g.89550502A>T | GRCh38 |
| NC_000016.9:g.89616910A>T , CM000678.1:g.89616910A>T | GRCh37 |
| NC_000016.8:g.88144411A>T | NCBI36 |
| NG_008082.1:g.47106A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.1651A>T | ENSP00000268704.3:p.Lys551Ter | |
| ENST00000561702.6:n.2344A>T | ||
| ENST00000566682.2:c.685A>T | ENSP00000461979.2:p.Lys229Ter | |
| ENST00000569820.6:c.1945A>T | ||
| ENST00000642226.1:n.1735A>T | ||
| ENST00000642334.1:c.3090A>T | ||
| ENST00000642814.1:n.1087A>T | ||
| ENST00000642984.1:n.1268A>T | ||
| ENST00000643105.1:c.2378A>T | ||
| ENST00000643350.1:n.1086A>T | ||
| ENST00000643409.1:n.2097A>T | ||
| ENST00000643496.1:n.1489A>T | ||
| ENST00000643649.1:c.1561A>T | ENSP00000494806.1:p.Lys521Ter | |
| ENST00000643668.1:c.*1966A>T | ENSP00000494903.1:n.*1966A>T | |
| ENST00000643724.1:c.*720A>T | ENSP00000496335.1:n.*720A>T | |
| ENST00000643954.1:c.2571A>T | ||
| ENST00000644171.1:n.2432A>T | ||
| ENST00000644210.1:c.*244A>T | ENSP00000495675.1:n.*244A>T | |
| ENST00000644225.1:n.1689A>T | ||
| ENST00000644464.1:n.325A>T | ||
| ENST00000644498.1:c.*1491A>T | ENSP00000496244.1:n.*1491A>T | |
| ENST00000644671.1:c.1329A>T | ||
| ENST00000644751.1:c.860A>T | ||
| ENST00000644781.1:c.1672A>T | ENSP00000495473.1:p.Lys558Ter | |
| ENST00000644901.1:c.*2066A>T | ENSP00000493797.1:n.*2066A>T | |
| ENST00000645042.1:c.*446A>T | ENSP00000493908.1:n.*446A>T | |
| ENST00000645063.1:c.1672A>T | ENSP00000493590.1:p.Lys558Ter | |
| ENST00000645354.1:c.2432A>T | ||
| ENST00000645392.1:n.2013A>T | ||
| ENST00000645742.1:n.306A>T | ||
| ENST00000645818.2:c.1672A>T MANE Select | ENSP00000495795.2:p.Lys558Ter | |
| ENST00000645842.1:n.1517A>T | ||
| ENST00000645886.1:c.1177A>T | ||
| ENST00000645897.1:c.1210A>T | ENSP00000495293.1:p.Lys404Ter | |
| ENST00000645952.1:n.1537A>T | ||
| ENST00000645977.1:n.2790A>T | ||
| ENST00000646005.1:n.1430A>T | ||
| ENST00000646263.1:c.*545A>T | ENSP00000494119.1:n.*545A>T | |
| ENST00000646303.1:c.1540A>T | ENSP00000494160.1:p.Lys514Ter | |
| ENST00000646399.1:c.2566A>T | ||
| ENST00000646445.1:c.530A>T | ||
| ENST00000646531.1:c.*295A>T | ENSP00000495185.1:n.*295A>T | |
| ENST00000646589.1:c.*800A>T | ENSP00000494739.1:n.*800A>T | |
| ENST00000646716.1:c.724A>T | ENSP00000495593.1:p.Lys242Ter | |
| ENST00000646826.1:c.*345A>T | ENSP00000495123.1:n.*345A>T | |
| ENST00000646930.1:c.*1601A>T | ENSP00000495219.1:n.*1601A>T | |
| ENST00000647032.1:c.1287A>T | ||
| ENST00000647079.1:c.1264A>T | ENSP00000495967.1:p.Lys422Ter | |
| ENST00000647123.1:n.1629A>T | ||
| ENST00000647227.1:c.1310A>T | ||
| ENST00000647302.1:n.2322A>T | ||
| ENST00000647476.1:n.559A>T | ||
| ENST00000647491.1:n.1416A>T | ||
| ENST00000268704.6:c.1672A>T | ENSP00000268704.2:p.Lys558Ter | |
| ENST00000561702.5:n.657A>T | ||
| ENST00000561911.5:c.217A>T | ENSP00000457387.1:p.Lys73Ter | |
| ENST00000565370.1:n.457A>T | ||
| ENST00000566221.5:c.526A>T | ||
| ENST00000569820.5:c.914A>T | ||
| ENST00000620811.4:c.447A>T | ENSP00000478030.1:p.Pro149= | |
| NM_003119.3:c.1672A>T | NP_003110.1:p.Lys558Ter | |
| XM_006721264.2:c.1672A>T | XP_006721327.1:p.Lys558Ter | |
| NM_001363850.1:c.1672A>T | NP_001350779.1:p.Lys558Ter | |
| XM_006721264.4:c.1672A>T | XP_006721327.1:p.Lys558Ter | |
| XR_001751971.2:n.2021A>T | ||
| XR_001751972.2:n.3308A>T | ||
| NM_003119.4:c.1672A>T MANE Select | NP_003110.1:p.Lys558Ter |