Linked Data
ClinVar Variation Id:
215224
dbSNP Id:
rs752257333
ExAC:
16:89620894 G / A
gnomAD v2:
16-89620894-G-A
gnomAD v4:
16-89554486-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89554486G>A , CM000678.2:g.89554486G>A | GRCh38 |
| NC_000016.9:g.89620894G>A , CM000678.1:g.89620894G>A | GRCh37 |
| NC_000016.8:g.88148395G>A | NCBI36 |
| NG_008082.1:g.51090G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.2083G>A | ENSP00000268704.3:p.Glu695Lys | |
| ENST00000561702.6:n.2776G>A | ||
| ENST00000565891.2:c.1G>A | ENSP00000495004.1:p.Glu1Lys | |
| ENST00000566682.2:c.1145G>A | ENSP00000461979.2:n.1145G>A | |
| ENST00000569720.2:n.787G>A | ||
| ENST00000569820.6:c.2377G>A | ||
| ENST00000642226.1:n.2167G>A | ||
| ENST00000642334.1:c.3522G>A | ||
| ENST00000642814.1:n.1519G>A | ||
| ENST00000642984.1:n.1827G>A | ||
| ENST00000643105.1:c.2810G>A | ||
| ENST00000643350.1:n.1518G>A | ||
| ENST00000643409.1:n.2529G>A | ||
| ENST00000643496.1:n.1921G>A | ||
| ENST00000643649.1:c.1993G>A | ENSP00000494806.1:p.Glu665Lys | |
| ENST00000643668.1:c.*2398G>A | ENSP00000494903.1:n.*2398G>A | |
| ENST00000643724.1:c.*1152G>A | ENSP00000496335.1:n.*1152G>A | |
| ENST00000643954.1:c.3003G>A | ||
| ENST00000644171.1:n.2864G>A | ||
| ENST00000644210.1:c.*676G>A | ENSP00000495675.1:n.*676G>A | |
| ENST00000644225.1:n.2121G>A | ||
| ENST00000644281.1:n.2788G>A | ||
| ENST00000644464.1:n.757G>A | ||
| ENST00000644498.1:c.*1923G>A | ENSP00000496244.1:n.*1923G>A | |
| ENST00000644671.1:c.1761G>A | ||
| ENST00000644751.1:c.1292G>A | ||
| ENST00000644781.1:c.2059G>A | ENSP00000495473.1:p.Glu687Lys | |
| ENST00000644901.1:c.*2498G>A | ENSP00000493797.1:n.*2498G>A | |
| ENST00000645042.1:c.*878G>A | ENSP00000493908.1:n.*878G>A | |
| ENST00000645063.1:c.2104G>A | ENSP00000493590.1:p.Glu702Lys | |
| ENST00000645354.1:c.2864G>A | ||
| ENST00000645392.1:n.2445G>A | ||
| ENST00000645742.1:n.738G>A | ||
| ENST00000645818.2:c.2104G>A MANE Select | ENSP00000495795.2:p.Glu702Lys | |
| ENST00000645842.1:n.1949G>A | ||
| ENST00000645886.1:c.1609G>A | ||
| ENST00000645897.1:c.1642G>A | ENSP00000495293.1:p.Glu548Lys | |
| ENST00000645952.1:n.1969G>A | ||
| ENST00000645977.1:n.3222G>A | ||
| ENST00000646005.1:n.1862G>A | ||
| ENST00000646263.1:c.*977G>A | ENSP00000494119.1:n.*977G>A | |
| ENST00000646303.1:c.1972G>A | ENSP00000494160.1:p.Glu658Lys | |
| ENST00000646399.1:c.2998G>A | ||
| ENST00000646445.1:c.962G>A | ||
| ENST00000646531.1:c.*727G>A | ENSP00000495185.1:n.*727G>A | |
| ENST00000646589.1:c.*1232G>A | ENSP00000494739.1:n.*1232G>A | |
| ENST00000646716.1:c.1156G>A | ENSP00000495593.1:p.Glu386Lys | |
| ENST00000646826.1:c.*777G>A | ENSP00000495123.1:n.*777G>A | |
| ENST00000646930.1:c.*2033G>A | ENSP00000495219.1:n.*2033G>A | |
| ENST00000647032.1:c.1735G>A | ||
| ENST00000647079.1:c.1696G>A | ENSP00000495967.1:p.Glu566Lys | |
| ENST00000647123.1:n.2061G>A | ||
| ENST00000647227.1:c.1742G>A | ||
| ENST00000647302.1:n.2754G>A | ||
| ENST00000647476.1:n.991G>A | ||
| ENST00000647491.1:n.1848G>A | ||
| ENST00000268704.6:c.2104G>A | ENSP00000268704.2:p.Glu702Lys | |
| ENST00000561702.5:n.1089G>A | ||
| ENST00000561911.5:c.704G>A | ENSP00000457387.1:n.704G>A | |
| ENST00000566682.1:c.240G>A | ||
| ENST00000569720.1:n.295G>A | ||
| ENST00000569820.5:c.1346G>A | ||
| ENST00000620811.4:c.*150G>A | ENSP00000478030.1:n.*150G>A | |
| NM_003119.3:c.2104G>A | NP_003110.1:p.Glu702Lys | |
| XM_006721264.2:c.2104G>A | XP_006721327.1:p.Glu702Lys | |
| NM_001363850.1:c.2104G>A | NP_001350779.1:p.Glu702Lys | |
| XM_006721264.4:c.2104G>A | XP_006721327.1:p.Glu702Lys | |
| XR_001751971.2:n.2453G>A | ||
| XR_001751972.2:n.3740G>A | ||
| NM_003119.4:c.2104G>A MANE Select | NP_003110.1:p.Glu702Lys |