Linked Data
ClinVar Variation Id:
95455
dbSNP Id:
rs11243406
ExAC:
9:134390870 C / A
gnomAD v2:
9-134390870-C-A
gnomAD v3:
9-131515483-C-A
gnomAD v4:
9-131515483-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131515483C>A , CM000671.2:g.131515483C>A | GRCh38 |
| NC_000009.11:g.134390870C>A , CM000671.1:g.134390870C>A | GRCh37 |
| NC_000009.10:g.133380691C>A | NCBI36 |
| NG_008896.1:g.17582C>A | |
| NG_008896.2:g.17582C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1071C>A | ENSP00000343034.7:p.Asp357Glu | |
| ENST00000404875.7:n.1773C>A | ||
| ENST00000423007.6:c.1290C>A | ENSP00000404119.2:p.Asp430Glu | |
| ENST00000677295.2:c.*1577C>A | ENSP00000504346.2:n.*1577C>A | |
| ENST00000678264.2:c.*1416C>A | ENSP00000503157.2:n.*1416C>A | |
| ENST00000682070.1:n.1698C>A | ||
| ENST00000682539.1:c.58C>A | ||
| ENST00000682813.1:n.1498C>A | ||
| ENST00000683392.1:n.3980C>A | ||
| ENST00000683712.1:n.1638C>A | ||
| ENST00000683900.1:n.3133C>A | ||
| ENST00000684062.1:n.1899C>A | ||
| ENST00000684579.1:n.3079C>A | ||
| ENST00000341012.12:c.1071C>A | ENSP00000343034.7:p.Asp357Glu | |
| ENST00000372220.5:c.102C>A | ENSP00000361294.5:p.Asp34Glu | |
| ENST00000372228.9:c.1299C>A | ENSP00000361302.3:p.Asp433Glu | |
| ENST00000402686.8:c.1233C>A MANE Select | ENSP00000385797.4:p.Asp411Glu | |
| ENST00000676640.1:c.1233C>A | ENSP00000503281.1:p.Asp411Glu | |
| ENST00000676803.1:c.408C>A | ENSP00000503093.1:p.Asp136Glu | |
| ENST00000676835.1:c.*448C>A | ENSP00000502911.1:n.*448C>A | |
| ENST00000677029.1:c.777C>A | ENSP00000502936.1:p.Asp259Glu | |
| ENST00000677099.1:c.*943C>A | ENSP00000504553.1:n.*943C>A | |
| ENST00000677216.1:c.882C>A | ENSP00000503772.1:p.Asp294Glu | |
| ENST00000677295.1:c.*610C>A | ENSP00000504346.1:n.*610C>A | |
| ENST00000677444.1:c.1039C>A | ||
| ENST00000677586.1:n.714C>A | ||
| ENST00000677626.1:c.882C>A | ENSP00000503552.1:p.Asp294Glu | |
| ENST00000677677.1:n.1193C>A | ||
| ENST00000677853.1:c.*241C>A | ENSP00000503488.1:n.*241C>A | |
| ENST00000677944.1:c.495C>A | ||
| ENST00000678264.1:c.*610C>A | ENSP00000503157.1:n.*610C>A | |
| ENST00000678303.1:c.1143C>A | ENSP00000503696.1:p.Asp381Glu | |
| ENST00000678366.1:c.*1482C>A | ENSP00000504353.1:n.*1482C>A | |
| ENST00000678546.1:c.*1178C>A | ENSP00000503062.1:n.*1178C>A | |
| ENST00000678548.1:c.*1305C>A | ENSP00000503934.1:n.*1305C>A | |
| ENST00000678626.1:n.930C>A | ||
| ENST00000678733.1:c.314C>A | ||
| ENST00000678739.1:c.*1559C>A | ENSP00000503806.1:n.*1559C>A | |
| ENST00000678795.1:n.320C>A | ||
| ENST00000678833.1:c.*680C>A | ENSP00000503893.1:n.*680C>A | |
| ENST00000678942.1:c.413C>A | ENSP00000504690.1:n.413C>A | |
| ENST00000679023.1:c.1071C>A | ENSP00000503718.1:p.Asp357Glu | |
| ENST00000679076.1:c.852C>A | ||
| ENST00000679111.1:c.1233C>A | ENSP00000504257.1:p.Asp411Glu | |
| ENST00000679189.1:c.882C>A | ENSP00000503356.1:p.Asp294Glu | |
| ENST00000341012.11:c.1071C>A | ENSP00000343034.7:p.Asp357Glu | |
| ENST00000372228.7:c.1299C>A | ENSP00000361302.3:p.Asp433Glu | |
| ENST00000402686.7:c.1233C>A | ENSP00000385797.3:p.Asp411Glu | |
| ENST00000404875.6:c.882C>A | ENSP00000384531.2:p.Asp294Glu | |
| ENST00000423007.5:c.1233C>A | ENSP00000404119.1:p.Asp411Glu | |
| ENST00000485278.5:n.1788C>A | ||
| NM_001077365.1:c.1233C>A | NP_001070833.1:p.Asp411Glu | |
| NM_001077366.1:c.1071C>A | NP_001070834.1:p.Asp357Glu | |
| NM_001136113.1:c.1233C>A | NP_001129585.1:p.Asp411Glu | |
| NM_001136114.1:c.882C>A | NP_001129586.1:p.Asp294Glu | |
| NM_007171.3:c.1299C>A | NP_009102.3:p.Asp433Glu | |
| XM_005272156.1:c.1299C>A | XP_005272213.1:p.Asp433Glu | |
| XM_005272158.1:c.1137C>A | XP_005272215.1:p.Asp379Glu | |
| XM_005272159.1:c.948C>A | XP_005272216.1:p.Asp316Glu | |
| XM_005272162.1:c.102C>A | XP_005272219.1:p.Asp34Glu | |
| XM_006716932.1:c.948C>A | XP_006716995.1:p.Asp316Glu | |
| XM_011518140.1:c.1152C>A | XP_011516442.1:p.Asp384Glu | |
| XM_011518141.1:c.1086C>A | XP_011516443.1:p.Asp362Glu | |
| XM_011518142.1:c.990C>A | XP_011516444.1:p.Asp330Glu | |
| XM_011518143.1:c.984C>A | XP_011516445.1:p.Asp328Glu | |
| XM_011518144.1:c.1299C>A | XP_011516446.1:p.Asp433Glu | |
| XM_011518145.1:c.843C>A | XP_011516447.1:p.Asp281Glu | |
| XM_011518146.1:c.984C>A | XP_011516448.1:p.Asp328Glu | |
| XR_929703.1:n.1475C>A | ||
| NM_001353193.1:c.1299C>A | NP_001340122.1:p.Asp433Glu | |
| NM_001353194.1:c.1071C>A | NP_001340123.1:p.Asp357Glu | |
| NM_001353195.1:c.882C>A | NP_001340124.1:p.Asp294Glu | |
| NM_001353196.1:c.1143C>A | NP_001340125.1:p.Asp381Glu | |
| NM_001353197.1:c.1137C>A | NP_001340126.1:p.Asp379Glu | |
| NM_001353198.1:c.1137C>A | NP_001340127.1:p.Asp379Glu | |
| NM_001353199.1:c.948C>A | NP_001340128.1:p.Asp316Glu | |
| NM_001353200.1:c.777C>A | NP_001340129.1:p.Asp259Glu | |
| NR_148391.1:n.1283C>A | ||
| NR_148392.1:n.1501C>A | ||
| NR_148393.1:n.1283C>A | ||
| NR_148394.1:n.1176C>A | ||
| NR_148395.1:n.1435C>A | ||
| NR_148396.1:n.1069C>A | ||
| NR_148397.1:n.1333C>A | ||
| NR_148398.1:n.1288C>A | ||
| NR_148399.1:n.1675C>A | ||
| NR_148400.1:n.1274C>A | ||
| XM_005272162.3:c.102C>A | XP_005272219.1:p.Asp34Glu | |
| XM_006716932.2:c.948C>A | XP_006716995.1:p.Asp316Glu | |
| XM_011518140.2:c.1152C>A | XP_011516442.1:p.Asp384Glu | |
| XM_011518141.2:c.1086C>A | XP_011516443.1:p.Asp362Glu | |
| XM_011518142.2:c.990C>A | XP_011516444.1:p.Asp330Glu | |
| XM_011518143.2:c.984C>A | XP_011516445.1:p.Asp328Glu | |
| XM_011518145.2:c.843C>A | XP_011516447.1:p.Asp281Glu | |
| XM_017014205.2:c.102C>A | XP_016869694.1:p.Asp34Glu | |
| XM_024447380.1:c.102C>A | XP_024303148.1:p.Asp34Glu | |
| XM_024447381.1:c.408C>A | XP_024303149.1:p.Asp136Glu | |
| XM_024447382.1:c.102C>A | XP_024303150.1:p.Asp34Glu | |
| XR_001746160.2:n.1403C>A | ||
| XR_001746162.2:n.1469C>A | ||
| XR_001746164.1:n.1186C>A | ||
| XR_001746166.2:n.1620C>A | ||
| NM_001077365.2:c.1233C>A MANE Select | NP_001070833.1:p.Asp411Glu | |
| NM_001077366.2:c.1071C>A | NP_001070834.1:p.Asp357Glu | |
| NM_001136113.2:c.1233C>A | NP_001129585.1:p.Asp411Glu | |
| NM_001136114.2:c.882C>A | NP_001129586.1:p.Asp294Glu | |
| NM_001353193.2:c.1299C>A | NP_001340122.2:p.Asp433Glu | |
| NM_001353194.2:c.1071C>A | NP_001340123.1:p.Asp357Glu | |
| NM_001353195.2:c.882C>A | NP_001340124.1:p.Asp294Glu | |
| NM_001353196.2:c.1143C>A | NP_001340125.1:p.Asp381Glu | |
| NM_001353197.2:c.1137C>A | NP_001340126.2:p.Asp379Glu | |
| NM_001353198.2:c.1137C>A | NP_001340127.2:p.Asp379Glu | |
| NM_001353199.2:c.948C>A | NP_001340128.2:p.Asp316Glu | |
| NM_001353200.2:c.777C>A | NP_001340129.1:p.Asp259Glu | |
| NM_001374689.1:c.1221C>A | NP_001361618.1:p.Asp407Glu | |
| NM_001374690.1:c.1233C>A | NP_001361619.1:p.Asp411Glu | |
| NM_001374691.1:c.882C>A | NP_001361620.1:p.Asp294Glu | |
| NM_001374692.1:c.882C>A | NP_001361621.1:p.Asp294Glu | |
| NM_001374693.1:c.882C>A | NP_001361622.1:p.Asp294Glu | |
| NM_001374695.1:c.843C>A | NP_001361624.1:p.Asp281Glu | |
| NM_007171.4:c.1299C>A | NP_009102.4:p.Asp433Glu | |
| NR_148391.2:n.1267C>A | ||
| NR_148392.2:n.1485C>A | ||
| NR_148393.2:n.1267C>A | ||
| NR_148394.2:n.1160C>A | ||
| NR_148395.2:n.1419C>A | ||
| NR_148396.2:n.1053C>A | ||
| NR_148397.2:n.1317C>A | ||
| NR_148398.2:n.1272C>A | ||
| NR_148399.2:n.1659C>A | ||
| NR_148400.2:n.1258C>A |