Linked Data
ClinVar Variation Id:
204942
dbSNP Id:
rs760115429
ExAC:
2:152695646 C / T
gnomAD v2:
2-152695646-C-T
gnomAD v3:
2-151839132-C-T
gnomAD v4:
2-151839132-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.151839132C>T , CM000664.2:g.151839132C>T | GRCh38 |
| NC_000002.11:g.152695646C>T , CM000664.1:g.152695646C>T | GRCh37 |
| NC_000002.10:g.152403892C>T | NCBI36 |
| NG_012641.1:g.264948G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534999.7:c.1448G>A | ENSP00000443893.1:p.Arg483Gln | |
| ENST00000201943.10:c.1364G>A | ENSP00000201943.5:p.Arg455Gln | |
| ENST00000360283.11:c.1406G>A | ENSP00000353425.8:p.Arg469Gln | |
| ENST00000397327.7:c.1313G>A | ENSP00000380490.3:p.Arg438Gln | |
| ENST00000427385.6:c.1427G>A | ENSP00000410978.2:p.Arg476Gln | |
| ENST00000439467.6:c.1409G>A | ENSP00000390161.2:p.Arg470Gln | |
| ENST00000534999.6:c.1448G>A | ENSP00000443893.1:p.Arg483Gln | |
| ENST00000539935.7:c.1550G>A MANE Select | ENSP00000438949.1:p.Arg517Gln | |
| ENST00000635738.1:c.*765G>A | ENSP00000489881.1:n.*765G>A | |
| ENST00000635803.1:n.1621G>A | ||
| ENST00000635890.1:c.539G>A | ||
| ENST00000635904.1:c.*1261G>A | ENSP00000490430.1:n.*1261G>A | |
| ENST00000635930.1:c.*580G>A | ENSP00000489953.1:n.*580G>A | |
| ENST00000636024.1:c.184+2536G>A | ||
| ENST00000636108.1:c.992G>A | ENSP00000490176.1:p.Arg331Gln | |
| ENST00000636130.1:c.1223G>A | ENSP00000490607.1:p.Arg408Gln | |
| ENST00000636350.1:c.1346G>A | ENSP00000489621.1:p.Arg449Gln | |
| ENST00000636380.1:c.1043G>A | ENSP00000490488.1:p.Arg348Gln | |
| ENST00000636442.1:c.1373G>A | ENSP00000489779.1:p.Arg458Gln | |
| ENST00000636507.1:c.*765G>A | ENSP00000490252.1:n.*765G>A | |
| ENST00000636598.1:c.1409G>A | ENSP00000490247.1:p.Arg470Gln | |
| ENST00000636617.1:c.1211G>A | ENSP00000490660.1:p.Arg404Gln | |
| ENST00000636664.1:c.*484G>A | ENSP00000490572.1:n.*484G>A | |
| ENST00000636721.1:c.806G>A | ENSP00000490795.1:p.Arg269Gln | |
| ENST00000636762.1:c.*952G>A | ENSP00000490918.1:n.*952G>A | |
| ENST00000636773.1:c.1223G>A | ENSP00000489818.1:p.Arg408Gln | |
| ENST00000636785.1:c.1079G>A | ENSP00000489788.1:p.Arg360Gln | |
| ENST00000636810.1:n.3613G>A | ||
| ENST00000636831.1:n.3282G>A | ||
| ENST00000636901.1:c.1166G>A | ENSP00000490145.1:p.Arg389Gln | |
| ENST00000637007.1:c.755G>A | ||
| ENST00000637132.1:c.*580G>A | ENSP00000490651.1:n.*580G>A | |
| ENST00000637217.1:c.1409G>A | ENSP00000490250.1:p.Arg470Gln | |
| ENST00000637224.1:c.*827+14316G>A | ENSP00000490276.1:n.*827+14316G>A | |
| ENST00000637232.1:c.*376G>A | ENSP00000490138.1:n.*376G>A | |
| ENST00000637284.1:c.992G>A | ENSP00000489787.1:p.Arg331Gln | |
| ENST00000637309.1:c.*235G>A | ENSP00000490127.1:n.*235G>A | |
| ENST00000637312.1:c.*819G>A | ENSP00000490144.1:n.*819G>A | |
| ENST00000637319.1:n.3123G>A | ||
| ENST00000637330.1:c.*1391G>A | ENSP00000490817.1:n.*1391G>A | |
| ENST00000637418.1:c.1325G>A | ENSP00000489679.1:p.Arg442Gln | |
| ENST00000637436.1:c.*1368G>A | ENSP00000489746.1:n.*1368G>A | |
| ENST00000637491.1:c.*765G>A | ENSP00000490510.1:n.*765G>A | |
| ENST00000637514.1:c.992G>A | ENSP00000490304.1:p.Arg331Gln | |
| ENST00000637530.1:n.2963G>A | ||
| ENST00000637535.1:c.*580G>A | ENSP00000490891.1:n.*580G>A | |
| ENST00000637547.1:c.911G>A | ENSP00000490124.1:p.Arg304Gln | |
| ENST00000637550.1:c.*376G>A | ENSP00000489943.1:n.*376G>A | |
| ENST00000637559.1:c.*332+2771G>A | ENSP00000489697.1:n.*332+2771G>A | |
| ENST00000637762.1:c.1460G>A | ENSP00000489876.1:p.Arg487Gln | |
| ENST00000637765.1:n.2867G>A | ||
| ENST00000637779.1:c.1259G>A | ENSP00000489732.1:p.Arg420Gln | |
| ENST00000637828.1:c.*299G>A | ENSP00000490443.1:n.*299G>A | |
| ENST00000637913.1:n.1535G>A | ||
| ENST00000637942.1:n.1701G>A | ||
| ENST00000637956.1:c.*394G>A | ENSP00000490298.1:n.*394G>A | |
| ENST00000638005.1:c.1496G>A | ENSP00000489677.1:p.Arg499Gln | |
| ENST00000638040.1:c.1220G>A | ENSP00000489883.1:p.Arg407Gln | |
| ENST00000638091.1:c.1262G>A | ENSP00000489967.1:p.Arg421Gln | |
| ENST00000638150.1:c.*781G>A | ENSP00000490501.1:n.*781G>A | |
| ENST00000201943.9:c.1364G>A | ENSP00000201943.5:p.Arg455Gln | |
| ENST00000360283.10:c.*765G>A | ENSP00000353425.7:n.*765G>A | |
| ENST00000397327.6:c.1409G>A | ENSP00000380490.2:p.Arg470Gln | |
| ENST00000427385.5:c.1496G>A | ENSP00000410978.1:p.Arg499Gln | |
| ENST00000439467.5:c.1535G>A | ENSP00000390161.1:p.Arg512Gln | |
| ENST00000534999.5:c.1448G>A | ENSP00000443893.1:p.Arg483Gln | |
| ENST00000539935.5:c.1550G>A | ENSP00000438949.1:p.Arg517Gln | |
| NM_000726.3:c.1550G>A | NP_000717.2:p.Arg517Gln | |
| NM_001005746.2:c.1496G>A | NP_001005746.1:p.Arg499Gln | |
| NM_001005747.2:c.1448G>A | NP_001005747.1:p.Arg483Gln | |
| NM_001145798.1:c.1364G>A | NP_001139270.1:p.Arg455Gln | |
| XM_006712731.1:c.1409G>A | XP_006712794.1:p.Arg470Gln | |
| XM_011511795.1:c.1409G>A | XP_011510097.1:p.Arg470Gln | |
| XM_011511796.1:c.1406G>A | XP_011510098.1:p.Arg469Gln | |
| XM_011511797.1:c.1361G>A | XP_011510099.1:p.Arg454Gln | |
| XM_011511800.1:c.896G>A | XP_011510102.1:p.Arg299Gln | |
| NM_000726.4:c.1550G>A | NP_000717.2:p.Arg517Gln | |
| NM_001005746.3:c.1496G>A | NP_001005746.1:p.Arg499Gln | |
| NM_001005747.3:c.1448G>A | NP_001005747.1:p.Arg483Gln | |
| NM_001145798.2:c.1364G>A | NP_001139270.1:p.Arg455Gln | |
| NM_001320722.2:c.1409G>A | NP_001307651.1:p.Arg470Gln | |
| NM_001330113.1:c.1307G>A | NP_001317042.1:p.Arg436Gln | |
| NM_001330114.1:c.896G>A | NP_001317043.1:p.Arg299Gln | |
| NM_001330115.1:c.1259G>A | NP_001317044.1:p.Arg420Gln | |
| NM_001330116.1:c.1220G>A | NP_001317045.1:p.Arg407Gln | |
| NM_001330117.1:c.992G>A | NP_001317046.1:p.Arg331Gln | |
| NM_001330118.1:c.1409G>A | NP_001317047.1:p.Arg470Gln | |
| XM_011511796.2:c.1406G>A | XP_011510098.1:p.Arg469Gln | |
| XM_011511797.3:c.1361G>A | XP_011510099.1:p.Arg454Gln | |
| XM_017004885.1:c.896G>A | XP_016860374.1:p.Arg299Gln | |
| XM_024453128.1:c.992G>A | XP_024308896.1:p.Arg331Gln | |
| XR_001738928.1:n.3408G>A | ||
| XR_001738935.1:n.1518G>A | ||
| XR_001738937.2:n.1659G>A | ||
| XR_001738938.2:n.2328G>A | ||
| XR_001738939.1:n.1628G>A | ||
| XR_001738940.2:n.1769G>A | ||
| XR_002959337.1:n.1938G>A | ||
| XR_002959338.1:n.1900G>A | ||
| XR_923022.3:n.1775G>A | ||
| NM_001005746.4:c.1496G>A | NP_001005746.1:p.Arg499Gln | |
| NM_001005747.4:c.1448G>A | NP_001005747.1:p.Arg483Gln | |
| NM_001320722.3:c.1409G>A | NP_001307651.1:p.Arg470Gln | |
| NM_001330113.2:c.1307G>A | NP_001317042.1:p.Arg436Gln | |
| NM_001330114.2:c.896G>A | NP_001317043.1:p.Arg299Gln | |
| NM_001330115.2:c.1259G>A | NP_001317044.1:p.Arg420Gln | |
| NM_001330116.2:c.1220G>A | NP_001317045.1:p.Arg407Gln | |
| NM_001330117.2:c.992G>A | NP_001317046.1:p.Arg331Gln | |
| NM_000726.5:c.1550G>A MANE Select | NP_000717.2:p.Arg517Gln |