Linked Data
ClinVar Variation Id:
95459
ClinVar RCV Id:
RCV000192982
RCV000443667
RCV000515174
RCV001166758
RCV001085429
RCV001252355
RCV001332898
dbSNP Id:
rs117985576
ExAC:
9:134394788 G / A
gnomAD v2:
9-134394788-G-A
gnomAD v3:
9-131519401-G-A
gnomAD v4:
9-131519401-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131519401G>A , CM000671.2:g.131519401G>A | GRCh38 |
| NC_000009.11:g.134394788G>A , CM000671.1:g.134394788G>A | GRCh37 |
| NC_000009.10:g.133384609G>A | NCBI36 |
| NG_008896.1:g.21500G>A | |
| NG_008896.2:g.21500G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1337G>A | ENSP00000343034.7:p.Arg446Lys | |
| ENST00000404875.7:n.2039G>A | ||
| ENST00000423007.6:c.1556G>A | ENSP00000404119.2:p.Arg519Lys | |
| ENST00000677295.2:c.*1843G>A | ENSP00000504346.2:n.*1843G>A | |
| ENST00000678264.2:c.*1682G>A | ENSP00000503157.2:n.*1682G>A | |
| ENST00000682070.1:n.1964G>A | ||
| ENST00000682813.1:n.1903G>A | ||
| ENST00000683392.1:n.4246G>A | ||
| ENST00000683712.1:n.1904G>A | ||
| ENST00000683900.1:n.3399G>A | ||
| ENST00000684062.1:n.2165G>A | ||
| ENST00000684579.1:n.3345G>A | ||
| ENST00000684679.1:n.726G>A | ||
| ENST00000341012.12:c.1337G>A | ENSP00000343034.7:p.Arg446Lys | |
| ENST00000372220.5:c.368G>A | ENSP00000361294.5:p.Arg123Lys | |
| ENST00000372228.9:c.1565G>A | ENSP00000361302.3:p.Arg522Lys | |
| ENST00000402686.8:c.1499G>A MANE Select | ENSP00000385797.4:p.Arg500Lys | |
| ENST00000676640.1:c.1499G>A | ENSP00000503281.1:p.Arg500Lys | |
| ENST00000676803.1:c.674G>A | ENSP00000503093.1:p.Arg225Lys | |
| ENST00000676835.1:c.*714G>A | ENSP00000502911.1:n.*714G>A | |
| ENST00000677029.1:c.1043G>A | ENSP00000502936.1:p.Arg348Lys | |
| ENST00000677099.1:c.*1209G>A | ENSP00000504553.1:n.*1209G>A | |
| ENST00000677216.1:c.1148G>A | ENSP00000503772.1:p.Arg383Lys | |
| ENST00000677221.1:n.524G>A | ||
| ENST00000677295.1:c.*876G>A | ENSP00000504346.1:n.*876G>A | |
| ENST00000677444.1:c.1444G>A | ||
| ENST00000677586.1:n.980G>A | ||
| ENST00000677626.1:c.1148G>A | ENSP00000503552.1:p.Arg383Lys | |
| ENST00000677677.1:n.1459G>A | ||
| ENST00000677853.1:c.*507G>A | ENSP00000503488.1:n.*507G>A | |
| ENST00000678202.1:n.658G>A | ||
| ENST00000678264.1:c.*876G>A | ENSP00000503157.1:n.*876G>A | |
| ENST00000678303.1:c.1409G>A | ENSP00000503696.1:p.Arg470Lys | |
| ENST00000678366.1:c.*1748G>A | ENSP00000504353.1:n.*1748G>A | |
| ENST00000678546.1:c.*1444G>A | ENSP00000503062.1:n.*1444G>A | |
| ENST00000678548.1:c.*1571G>A | ENSP00000503934.1:n.*1571G>A | |
| ENST00000678626.1:n.1335G>A | ||
| ENST00000678733.1:c.580G>A | ||
| ENST00000678739.1:c.*1820G>A | ENSP00000503806.1:n.*1820G>A | |
| ENST00000678833.1:c.*1251G>A | ENSP00000503893.1:n.*1251G>A | |
| ENST00000679023.1:c.1337G>A | ENSP00000503718.1:p.Arg446Lys | |
| ENST00000679076.1:c.1118G>A | ||
| ENST00000679111.1:c.*255G>A | ENSP00000504257.1:n.*255G>A | |
| ENST00000679189.1:c.1148G>A | ENSP00000503356.1:p.Arg383Lys | |
| ENST00000341012.11:c.1337G>A | ENSP00000343034.7:p.Arg446Lys | |
| ENST00000372220.4:c.362G>A | ENSP00000361294.4:p.Arg121Lys | |
| ENST00000372228.7:c.1565G>A | ENSP00000361302.3:p.Arg522Lys | |
| ENST00000402686.7:c.1499G>A | ENSP00000385797.3:p.Arg500Lys | |
| ENST00000404875.6:c.1148G>A | ENSP00000384531.2:p.Arg383Lys | |
| ENST00000423007.5:c.1499G>A | ENSP00000404119.1:p.Arg500Lys | |
| ENST00000467848.1:n.203G>A | ||
| ENST00000485278.5:n.2049G>A | ||
| NM_001077365.1:c.1499G>A | NP_001070833.1:p.Arg500Lys | |
| NM_001077366.1:c.1337G>A | NP_001070834.1:p.Arg446Lys | |
| NM_001136113.1:c.1499G>A | NP_001129585.1:p.Arg500Lys | |
| NM_001136114.1:c.1148G>A | NP_001129586.1:p.Arg383Lys | |
| NM_007171.3:c.1565G>A | NP_009102.3:p.Arg522Lys | |
| XM_005272156.1:c.1565G>A | XP_005272213.1:p.Arg522Lys | |
| XM_005272158.1:c.1403G>A | XP_005272215.1:p.Arg468Lys | |
| XM_005272159.1:c.1214G>A | XP_005272216.1:p.Arg405Lys | |
| XM_005272162.1:c.368G>A | XP_005272219.1:p.Arg123Lys | |
| XM_006716932.1:c.1214G>A | XP_006716995.1:p.Arg405Lys | |
| XM_011518140.1:c.1418G>A | XP_011516442.1:p.Arg473Lys | |
| XM_011518141.1:c.1352G>A | XP_011516443.1:p.Arg451Lys | |
| XM_011518142.1:c.1256G>A | XP_011516444.1:p.Arg419Lys | |
| XM_011518143.1:c.1250G>A | XP_011516445.1:p.Arg417Lys | |
| XM_011518145.1:c.1109G>A | XP_011516447.1:p.Arg370Lys | |
| XM_011518147.1:c.437G>A | XP_011516449.1:p.Arg146Lys | |
| XR_929703.1:n.1741G>A | ||
| NM_001353193.1:c.1565G>A | NP_001340122.1:p.Arg522Lys | |
| NM_001353194.1:c.1337G>A | NP_001340123.1:p.Arg446Lys | |
| NM_001353195.1:c.1148G>A | NP_001340124.1:p.Arg383Lys | |
| NM_001353196.1:c.1409G>A | NP_001340125.1:p.Arg470Lys | |
| NM_001353197.1:c.1403G>A | NP_001340126.1:p.Arg468Lys | |
| NM_001353198.1:c.1403G>A | NP_001340127.1:p.Arg468Lys | |
| NM_001353199.1:c.1214G>A | NP_001340128.1:p.Arg405Lys | |
| NM_001353200.1:c.1043G>A | NP_001340129.1:p.Arg348Lys | |
| NR_148391.1:n.1549G>A | ||
| NR_148392.1:n.1767G>A | ||
| NR_148393.1:n.1688G>A | ||
| NR_148394.1:n.1442G>A | ||
| NR_148395.1:n.1840G>A | ||
| NR_148396.1:n.1474G>A | ||
| NR_148397.1:n.1599G>A | ||
| NR_148398.1:n.1554G>A | ||
| NR_148399.1:n.2080G>A | ||
| NR_148400.1:n.1679G>A | ||
| XM_005272162.3:c.368G>A | XP_005272219.1:p.Arg123Lys | |
| XM_006716932.2:c.1214G>A | XP_006716995.1:p.Arg405Lys | |
| XM_011518140.2:c.1418G>A | XP_011516442.1:p.Arg473Lys | |
| XM_011518141.2:c.1352G>A | XP_011516443.1:p.Arg451Lys | |
| XM_011518142.2:c.1256G>A | XP_011516444.1:p.Arg419Lys | |
| XM_011518143.2:c.1250G>A | XP_011516445.1:p.Arg417Lys | |
| XM_011518145.2:c.1109G>A | XP_011516447.1:p.Arg370Lys | |
| XM_017014205.2:c.368G>A | XP_016869694.1:p.Arg123Lys | |
| XM_024447380.1:c.368G>A | XP_024303148.1:p.Arg123Lys | |
| XM_024447381.1:c.674G>A | XP_024303149.1:p.Arg225Lys | |
| XM_024447382.1:c.368G>A | XP_024303150.1:p.Arg123Lys | |
| XR_001746160.2:n.1669G>A | ||
| XR_001746162.2:n.1874G>A | ||
| XR_001746164.1:n.1591G>A | ||
| XR_001746166.2:n.1886G>A | ||
| NM_001077365.2:c.1499G>A MANE Select | NP_001070833.1:p.Arg500Lys | |
| NM_001077366.2:c.1337G>A | NP_001070834.1:p.Arg446Lys | |
| NM_001136113.2:c.1499G>A | NP_001129585.1:p.Arg500Lys | |
| NM_001136114.2:c.1148G>A | NP_001129586.1:p.Arg383Lys | |
| NM_001353193.2:c.1565G>A | NP_001340122.2:p.Arg522Lys | |
| NM_001353194.2:c.1337G>A | NP_001340123.1:p.Arg446Lys | |
| NM_001353195.2:c.1148G>A | NP_001340124.1:p.Arg383Lys | |
| NM_001353196.2:c.1409G>A | NP_001340125.1:p.Arg470Lys | |
| NM_001353197.2:c.1403G>A | NP_001340126.2:p.Arg468Lys | |
| NM_001353198.2:c.1403G>A | NP_001340127.2:p.Arg468Lys | |
| NM_001353199.2:c.1214G>A | NP_001340128.2:p.Arg405Lys | |
| NM_001353200.2:c.1043G>A | NP_001340129.1:p.Arg348Lys | |
| NM_001374689.1:c.1487G>A | NP_001361618.1:p.Arg496Lys | |
| NM_001374690.1:c.1366-679G>A | NP_001361619.1:n.1366-679G>A | |
| NM_001374691.1:c.1148G>A | NP_001361620.1:p.Arg383Lys | |
| NM_001374692.1:c.1148G>A | NP_001361621.1:p.Arg383Lys | |
| NM_001374693.1:c.1148G>A | NP_001361622.1:p.Arg383Lys | |
| NM_001374695.1:c.1109G>A | NP_001361624.1:p.Arg370Lys | |
| NM_007171.4:c.1565G>A | NP_009102.4:p.Arg522Lys | |
| NR_148391.2:n.1533G>A | ||
| NR_148392.2:n.1751G>A | ||
| NR_148393.2:n.1672G>A | ||
| NR_148394.2:n.1426G>A | ||
| NR_148395.2:n.1824G>A | ||
| NR_148396.2:n.1458G>A | ||
| NR_148397.2:n.1583G>A | ||
| NR_148398.2:n.1538G>A | ||
| NR_148399.2:n.2064G>A | ||
| NR_148400.2:n.1663G>A |