Linked Data
ClinVar Variation Id:
321282
dbSNP Id:
rs115448299
ExAC:
16:89611090 G / A
gnomAD v2:
16-89611090-G-A
gnomAD v3:
16-89544682-G-A
gnomAD v4:
16-89544682-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89544682G>A , CM000678.2:g.89544682G>A | GRCh38 |
| NC_000016.9:g.89611090G>A , CM000678.1:g.89611090G>A | GRCh37 |
| NC_000016.8:g.88138591G>A | NCBI36 |
| NG_008082.1:g.41286G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.1338G>A | ENSP00000268704.3:p.Ala446= | |
| ENST00000561945.2:n.504G>A | ||
| ENST00000566682.2:c.372G>A | ENSP00000461979.2:p.Ala124= | |
| ENST00000569820.6:c.35G>A | ||
| ENST00000642226.1:n.993G>A | ||
| ENST00000642263.1:n.110G>A | ||
| ENST00000642334.1:c.2568G>A | ||
| ENST00000642427.1:n.759G>A | ||
| ENST00000642814.1:n.774G>A | ||
| ENST00000642984.1:n.955G>A | ||
| ENST00000643105.1:c.1279G>A | ||
| ENST00000643345.1:c.*883G>A | ENSP00000493982.1:n.*883G>A | |
| ENST00000643350.1:n.207G>A | ||
| ENST00000643370.1:c.533G>A | ENSP00000494895.1:n.533G>A | |
| ENST00000643409.1:n.998G>A | ||
| ENST00000643496.1:n.1176G>A | ||
| ENST00000643649.1:c.1359G>A | ENSP00000494806.1:p.Ala453= | |
| ENST00000643668.1:c.*1653G>A | ENSP00000494903.1:n.*1653G>A | |
| ENST00000643724.1:c.*498-1976G>A | ENSP00000496335.1:n.*498-1976G>A | |
| ENST00000643734.1:n.4272G>A | ||
| ENST00000643954.1:c.2258G>A | ||
| ENST00000644044.1:c.453G>A | ||
| ENST00000644061.1:n.317G>A | ||
| ENST00000644171.1:n.1333G>A | ||
| ENST00000644210.1:c.1359G>A | ENSP00000495675.1:p.Ala453= | |
| ENST00000644225.1:n.1376G>A | ||
| ENST00000644498.1:c.*1178G>A | ENSP00000496244.1:n.*1178G>A | |
| ENST00000644556.1:n.260+3410G>A | ||
| ENST00000644671.1:c.1016G>A | ||
| ENST00000644748.1:n.2790G>A | ||
| ENST00000644751.1:c.761G>A | ||
| ENST00000644781.1:c.1359G>A | ENSP00000495473.1:p.Ala453= | |
| ENST00000644901.1:c.*1753G>A | ENSP00000493797.1:n.*1753G>A | |
| ENST00000644930.1:n.1699G>A | ||
| ENST00000645042.1:c.1359G>A | ENSP00000493908.1:p.Ala453= | |
| ENST00000645063.1:c.1359G>A | ENSP00000493590.1:p.Ala453= | |
| ENST00000645258.1:c.693G>A | ||
| ENST00000645354.1:c.2119G>A | ||
| ENST00000645392.1:n.1700G>A | ||
| ENST00000645818.2:c.1359G>A MANE Select | ENSP00000495795.2:p.Ala453= | |
| ENST00000645842.1:n.995G>A | ||
| ENST00000645886.1:c.864G>A | ||
| ENST00000645897.1:c.988-1976G>A | ENSP00000495293.1:n.988-1976G>A | |
| ENST00000645944.1:n.823G>A | ||
| ENST00000645952.1:n.914G>A | ||
| ENST00000645977.1:n.2477G>A | ||
| ENST00000646005.1:n.993G>A | ||
| ENST00000646263.1:c.*73G>A | ENSP00000494119.1:n.*73G>A | |
| ENST00000646303.1:c.1227G>A | ENSP00000494160.1:p.Ala409= | |
| ENST00000646399.1:c.2253G>A | ||
| ENST00000646445.1:c.217G>A | ||
| ENST00000646454.1:n.711-1976G>A | ||
| ENST00000646531.1:c.1359G>A | ENSP00000495185.1:p.Ala453= | |
| ENST00000646543.1:n.704G>A | ||
| ENST00000646589.1:c.*487G>A | ENSP00000494739.1:n.*487G>A | |
| ENST00000646716.1:c.411G>A | ENSP00000495593.1:p.Ala137= | |
| ENST00000646826.1:c.1359G>A | ENSP00000495123.1:p.Ala453= | |
| ENST00000646930.1:c.*1129G>A | ENSP00000495219.1:n.*1129G>A | |
| ENST00000646958.1:n.2404G>A | ||
| ENST00000647032.1:c.974G>A | ||
| ENST00000647079.1:c.951G>A | ENSP00000495967.1:p.Ala317= | |
| ENST00000647123.1:n.1107G>A | ||
| ENST00000647227.1:c.1088-1976G>A | ||
| ENST00000647302.1:n.1699G>A | ||
| ENST00000647491.1:n.944G>A | ||
| ENST00000268704.6:c.1359G>A | ENSP00000268704.2:p.Ala453= | |
| ENST00000561945.1:n.403G>A | ||
| ENST00000563218.5:n.85G>A | ||
| ENST00000569820.5:c.35G>A | ||
| ENST00000620811.4:c.-218G>A | ENSP00000478030.1:n.-218G>A | |
| NM_003119.3:c.1359G>A | NP_003110.1:p.Ala453= | |
| XM_006721264.2:c.1359G>A | XP_006721327.1:p.Ala453= | |
| XM_011523306.1:c.1359G>A | XP_011521608.1:p.Ala453= | |
| NM_001363850.1:c.1359G>A | NP_001350779.1:p.Ala453= | |
| XM_006721264.4:c.1359G>A | XP_006721327.1:p.Ala453= | |
| XM_017023597.1:c.1359G>A | XP_016879086.1:p.Ala453= | |
| XM_017023598.1:c.1359G>A | XP_016879087.1:p.Ala453= | |
| XR_001751971.2:n.1398G>A | ||
| XR_001751972.2:n.1398G>A | ||
| NM_003119.4:c.1359G>A MANE Select | NP_003110.1:p.Ala453= |