Linked Data
ClinVar Variation Id:
139241
dbSNP Id:
rs111475461
ExAC:
16:89613073 G / A
gnomAD v2:
16-89613073-G-A
gnomAD v3:
16-89546665-G-A
gnomAD v4:
16-89546665-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89546665G>A , CM000678.2:g.89546665G>A | GRCh38 |
| NC_000016.9:g.89613073G>A , CM000678.1:g.89613073G>A | GRCh37 |
| NC_000016.8:g.88140574G>A | NCBI36 |
| NG_008082.1:g.43269G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.1436G>A | ENSP00000268704.3:p.Arg479Gln | |
| ENST00000563218.6:n.516G>A | ||
| ENST00000566682.2:c.470G>A | ENSP00000461979.2:p.Arg157Gln | |
| ENST00000569820.6:c.443G>A | ||
| ENST00000642226.1:n.1306G>A | ||
| ENST00000642263.1:n.208G>A | ||
| ENST00000642334.1:c.2875G>A | ||
| ENST00000642427.1:n.857G>A | ||
| ENST00000642814.1:n.872G>A | ||
| ENST00000642984.1:n.1053G>A | ||
| ENST00000643105.1:c.2163G>A | ||
| ENST00000643350.1:n.514G>A | ||
| ENST00000643370.1:c.631G>A | ENSP00000494895.1:n.631G>A | |
| ENST00000643409.1:n.1882G>A | ||
| ENST00000643496.1:n.1274G>A | ||
| ENST00000643649.1:c.1457G>A | ENSP00000494806.1:p.Arg486Gln | |
| ENST00000643668.1:c.*1751G>A | ENSP00000494903.1:n.*1751G>A | |
| ENST00000643724.1:c.*505G>A | ENSP00000496335.1:n.*505G>A | |
| ENST00000643734.1:n.4370G>A | ||
| ENST00000643954.1:c.2356G>A | ||
| ENST00000644061.1:n.415G>A | ||
| ENST00000644171.1:n.2217G>A | ||
| ENST00000644210.1:c.*29G>A | ENSP00000495675.1:n.*29G>A | |
| ENST00000644225.1:n.1474G>A | ||
| ENST00000644464.1:n.110G>A | ||
| ENST00000644498.1:c.*1276G>A | ENSP00000496244.1:n.*1276G>A | |
| ENST00000644556.1:n.261-1637G>A | ||
| ENST00000644671.1:c.1114G>A | ||
| ENST00000644748.1:n.4773G>A | ||
| ENST00000644751.1:c.851+1893G>A | ||
| ENST00000644781.1:c.1457G>A | ENSP00000495473.1:p.Arg486Gln | |
| ENST00000644901.1:c.*1851G>A | ENSP00000493797.1:n.*1851G>A | |
| ENST00000644930.1:n.2583G>A | ||
| ENST00000645042.1:c.*231G>A | ENSP00000493908.1:n.*231G>A | |
| ENST00000645063.1:c.1457G>A | ENSP00000493590.1:p.Arg486Gln | |
| ENST00000645354.1:c.2217G>A | ||
| ENST00000645392.1:n.1798G>A | ||
| ENST00000645742.1:n.91G>A | ||
| ENST00000645818.2:c.1457G>A MANE Select | ENSP00000495795.2:p.Arg486Gln | |
| ENST00000645842.1:n.1302G>A | ||
| ENST00000645886.1:c.962G>A | ||
| ENST00000645897.1:c.995G>A | ENSP00000495293.1:p.Arg332Gln | |
| ENST00000645944.1:n.1231G>A | ||
| ENST00000645952.1:n.1322G>A | ||
| ENST00000645977.1:n.2575G>A | ||
| ENST00000646005.1:n.1215G>A | ||
| ENST00000646263.1:c.*330G>A | ENSP00000494119.1:n.*330G>A | |
| ENST00000646303.1:c.1325G>A | ENSP00000494160.1:p.Arg442Gln | |
| ENST00000646399.1:c.2351G>A | ||
| ENST00000646445.1:c.315G>A | ||
| ENST00000646454.1:n.718G>A | ||
| ENST00000646531.1:c.*80G>A | ENSP00000495185.1:n.*80G>A | |
| ENST00000646543.1:n.2211G>A | ||
| ENST00000646589.1:c.*585G>A | ENSP00000494739.1:n.*585G>A | |
| ENST00000646716.1:c.509G>A | ENSP00000495593.1:p.Arg170Gln | |
| ENST00000646826.1:c.*130G>A | ENSP00000495123.1:n.*130G>A | |
| ENST00000646930.1:c.*1386G>A | ENSP00000495219.1:n.*1386G>A | |
| ENST00000646958.1:n.2502G>A | ||
| ENST00000647032.1:c.1072G>A | ||
| ENST00000647079.1:c.1049G>A | ENSP00000495967.1:p.Arg350Gln | |
| ENST00000647123.1:n.1414G>A | ||
| ENST00000647227.1:c.1095G>A | ||
| ENST00000647302.1:n.2107G>A | ||
| ENST00000647491.1:n.1201G>A | ||
| ENST00000268704.6:c.1457G>A | ENSP00000268704.2:p.Arg486Gln | |
| ENST00000561911.5:c.2G>A | ENSP00000457387.1:p.Arg1Gln | |
| ENST00000563218.5:n.183G>A | ||
| ENST00000566221.5:c.55G>A | ||
| ENST00000569820.5:c.342G>A | ||
| ENST00000620811.4:c.-120G>A | ENSP00000478030.1:n.-120G>A | |
| NM_003119.3:c.1457G>A | NP_003110.1:p.Arg486Gln | |
| XM_006721264.2:c.1457G>A | XP_006721327.1:p.Arg486Gln | |
| NM_001363850.1:c.1457G>A | NP_001350779.1:p.Arg486Gln | |
| XM_006721264.4:c.1457G>A | XP_006721327.1:p.Arg486Gln | |
| XM_017023597.1:c.1457G>A | XP_016879086.1:p.Arg486Gln | |
| XM_017023598.1:c.1457G>A | XP_016879087.1:p.Arg486Gln | |
| XR_001751971.2:n.1806G>A | ||
| XR_001751972.2:n.1806G>A | ||
| NM_003119.4:c.1457G>A MANE Select | NP_003110.1:p.Arg486Gln |