Linked Data
ClinVar Variation Id:
365278
dbSNP Id:
rs753403833
ExAC:
9:134393882 A / C
gnomAD v2:
9-134393882-A-C
gnomAD v4:
9-131518495-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131518495A>C , CM000671.2:g.131518495A>C | GRCh38 |
| NC_000009.11:g.134393882A>C , CM000671.1:g.134393882A>C | GRCh37 |
| NC_000009.10:g.133383703A>C | NCBI36 |
| NG_008896.1:g.20594A>C | |
| NG_008896.2:g.20594A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1161A>C | ENSP00000343034.7:p.Ser387= | |
| ENST00000404875.7:n.1863A>C | ||
| ENST00000423007.6:c.1380A>C | ENSP00000404119.2:p.Ser460= | |
| ENST00000677295.2:c.*1667A>C | ENSP00000504346.2:n.*1667A>C | |
| ENST00000678264.2:c.*1506A>C | ENSP00000503157.2:n.*1506A>C | |
| ENST00000682070.1:n.1788A>C | ||
| ENST00000682535.1:n.95A>C | ||
| ENST00000682539.1:c.261A>C | ||
| ENST00000682813.1:n.1588A>C | ||
| ENST00000683110.1:n.51A>C | ||
| ENST00000683392.1:n.4070A>C | ||
| ENST00000683712.1:n.1728A>C | ||
| ENST00000683900.1:n.3223A>C | ||
| ENST00000684062.1:n.1989A>C | ||
| ENST00000684579.1:n.3169A>C | ||
| ENST00000684679.1:n.550A>C | ||
| ENST00000341012.12:c.1161A>C | ENSP00000343034.7:p.Ser387= | |
| ENST00000372220.5:c.192A>C | ENSP00000361294.5:p.Ser64= | |
| ENST00000372228.9:c.1389A>C | ENSP00000361302.3:p.Ser463= | |
| ENST00000402686.8:c.1323A>C MANE Select | ENSP00000385797.4:p.Ser441= | |
| ENST00000676640.1:c.1323A>C | ENSP00000503281.1:p.Ser441= | |
| ENST00000676803.1:c.498A>C | ENSP00000503093.1:p.Ser166= | |
| ENST00000676835.1:c.*538A>C | ENSP00000502911.1:n.*538A>C | |
| ENST00000677029.1:c.867A>C | ENSP00000502936.1:p.Ser289= | |
| ENST00000677099.1:c.*1033A>C | ENSP00000504553.1:n.*1033A>C | |
| ENST00000677216.1:c.972A>C | ENSP00000503772.1:p.Ser324= | |
| ENST00000677221.1:n.348A>C | ||
| ENST00000677295.1:c.*700A>C | ENSP00000504346.1:n.*700A>C | |
| ENST00000677444.1:c.1129A>C | ||
| ENST00000677586.1:n.804A>C | ||
| ENST00000677626.1:c.972A>C | ENSP00000503552.1:p.Ser324= | |
| ENST00000677677.1:n.1283A>C | ||
| ENST00000677853.1:c.*331A>C | ENSP00000503488.1:n.*331A>C | |
| ENST00000677983.1:n.412A>C | ||
| ENST00000678202.1:n.343A>C | ||
| ENST00000678264.1:c.*700A>C | ENSP00000503157.1:n.*700A>C | |
| ENST00000678303.1:c.1233A>C | ENSP00000503696.1:p.Ser411= | |
| ENST00000678366.1:c.*1572A>C | ENSP00000504353.1:n.*1572A>C | |
| ENST00000678546.1:c.*1268A>C | ENSP00000503062.1:n.*1268A>C | |
| ENST00000678548.1:c.*1395A>C | ENSP00000503934.1:n.*1395A>C | |
| ENST00000678626.1:n.1020A>C | ||
| ENST00000678733.1:c.404A>C | ||
| ENST00000678739.1:c.*1649A>C | ENSP00000503806.1:n.*1649A>C | |
| ENST00000678795.1:n.410A>C | ||
| ENST00000678833.1:c.*770A>C | ENSP00000503893.1:n.*770A>C | |
| ENST00000678942.1:c.503A>C | ENSP00000504690.1:n.503A>C | |
| ENST00000679023.1:c.1161A>C | ENSP00000503718.1:p.Ser387= | |
| ENST00000679076.1:c.942A>C | ||
| ENST00000679111.1:c.1323A>C | ENSP00000504257.1:p.Ser441= | |
| ENST00000679189.1:c.972A>C | ENSP00000503356.1:p.Ser324= | |
| ENST00000341012.11:c.1161A>C | ENSP00000343034.7:p.Ser387= | |
| ENST00000372220.4:c.186A>C | ENSP00000361294.4:p.Ser62= | |
| ENST00000372228.7:c.1389A>C | ENSP00000361302.3:p.Ser463= | |
| ENST00000402686.7:c.1323A>C | ENSP00000385797.3:p.Ser441= | |
| ENST00000404875.6:c.972A>C | ENSP00000384531.2:p.Ser324= | |
| ENST00000423007.5:c.1323A>C | ENSP00000404119.1:p.Ser441= | |
| ENST00000485278.5:n.1878A>C | ||
| NM_001077365.1:c.1323A>C | NP_001070833.1:p.Ser441= | |
| NM_001077366.1:c.1161A>C | NP_001070834.1:p.Ser387= | |
| NM_001136113.1:c.1323A>C | NP_001129585.1:p.Ser441= | |
| NM_001136114.1:c.972A>C | NP_001129586.1:p.Ser324= | |
| NM_007171.3:c.1389A>C | NP_009102.3:p.Ser463= | |
| XM_005272156.1:c.1389A>C | XP_005272213.1:p.Ser463= | |
| XM_005272158.1:c.1227A>C | XP_005272215.1:p.Ser409= | |
| XM_005272159.1:c.1038A>C | XP_005272216.1:p.Ser346= | |
| XM_005272162.1:c.192A>C | XP_005272219.1:p.Ser64= | |
| XM_006716932.1:c.1038A>C | XP_006716995.1:p.Ser346= | |
| XM_011518140.1:c.1242A>C | XP_011516442.1:p.Ser414= | |
| XM_011518141.1:c.1176A>C | XP_011516443.1:p.Ser392= | |
| XM_011518142.1:c.1080A>C | XP_011516444.1:p.Ser360= | |
| XM_011518143.1:c.1074A>C | XP_011516445.1:p.Ser358= | |
| XM_011518144.1:c.1389A>C | XP_011516446.1:p.Ser463= | |
| XM_011518145.1:c.933A>C | XP_011516447.1:p.Ser311= | |
| XM_011518146.1:c.1074A>C | XP_011516448.1:p.Ser358= | |
| XM_011518147.1:c.261A>C | XP_011516449.1:p.Ser87= | |
| XR_929703.1:n.1565A>C | ||
| NM_001353193.1:c.1389A>C | NP_001340122.1:p.Ser463= | |
| NM_001353194.1:c.1161A>C | NP_001340123.1:p.Ser387= | |
| NM_001353195.1:c.972A>C | NP_001340124.1:p.Ser324= | |
| NM_001353196.1:c.1233A>C | NP_001340125.1:p.Ser411= | |
| NM_001353197.1:c.1227A>C | NP_001340126.1:p.Ser409= | |
| NM_001353198.1:c.1227A>C | NP_001340127.1:p.Ser409= | |
| NM_001353199.1:c.1038A>C | NP_001340128.1:p.Ser346= | |
| NM_001353200.1:c.867A>C | NP_001340129.1:p.Ser289= | |
| NR_148391.1:n.1373A>C | ||
| NR_148392.1:n.1591A>C | ||
| NR_148393.1:n.1373A>C | ||
| NR_148394.1:n.1266A>C | ||
| NR_148395.1:n.1525A>C | ||
| NR_148396.1:n.1159A>C | ||
| NR_148397.1:n.1423A>C | ||
| NR_148398.1:n.1378A>C | ||
| NR_148399.1:n.1765A>C | ||
| NR_148400.1:n.1364A>C | ||
| XM_005272162.3:c.192A>C | XP_005272219.1:p.Ser64= | |
| XM_006716932.2:c.1038A>C | XP_006716995.1:p.Ser346= | |
| XM_011518140.2:c.1242A>C | XP_011516442.1:p.Ser414= | |
| XM_011518141.2:c.1176A>C | XP_011516443.1:p.Ser392= | |
| XM_011518142.2:c.1080A>C | XP_011516444.1:p.Ser360= | |
| XM_011518143.2:c.1074A>C | XP_011516445.1:p.Ser358= | |
| XM_011518145.2:c.933A>C | XP_011516447.1:p.Ser311= | |
| XM_017014205.2:c.192A>C | XP_016869694.1:p.Ser64= | |
| XM_024447380.1:c.192A>C | XP_024303148.1:p.Ser64= | |
| XM_024447381.1:c.498A>C | XP_024303149.1:p.Ser166= | |
| XM_024447382.1:c.192A>C | XP_024303150.1:p.Ser64= | |
| XR_001746160.2:n.1493A>C | ||
| XR_001746162.2:n.1559A>C | ||
| XR_001746164.1:n.1276A>C | ||
| XR_001746166.2:n.1710A>C | ||
| NM_001077365.2:c.1323A>C MANE Select | NP_001070833.1:p.Ser441= | |
| NM_001077366.2:c.1161A>C | NP_001070834.1:p.Ser387= | |
| NM_001136113.2:c.1323A>C | NP_001129585.1:p.Ser441= | |
| NM_001136114.2:c.972A>C | NP_001129586.1:p.Ser324= | |
| NM_001353193.2:c.1389A>C | NP_001340122.2:p.Ser463= | |
| NM_001353194.2:c.1161A>C | NP_001340123.1:p.Ser387= | |
| NM_001353195.2:c.972A>C | NP_001340124.1:p.Ser324= | |
| NM_001353196.2:c.1233A>C | NP_001340125.1:p.Ser411= | |
| NM_001353197.2:c.1227A>C | NP_001340126.2:p.Ser409= | |
| NM_001353198.2:c.1227A>C | NP_001340127.2:p.Ser409= | |
| NM_001353199.2:c.1038A>C | NP_001340128.2:p.Ser346= | |
| NM_001353200.2:c.867A>C | NP_001340129.1:p.Ser289= | |
| NM_001374689.1:c.1311A>C | NP_001361618.1:p.Ser437= | |
| NM_001374690.1:c.1323A>C | NP_001361619.1:p.Ser441= | |
| NM_001374691.1:c.972A>C | NP_001361620.1:p.Ser324= | |
| NM_001374692.1:c.972A>C | NP_001361621.1:p.Ser324= | |
| NM_001374693.1:c.972A>C | NP_001361622.1:p.Ser324= | |
| NM_001374695.1:c.933A>C | NP_001361624.1:p.Ser311= | |
| NM_007171.4:c.1389A>C | NP_009102.4:p.Ser463= | |
| NR_148391.2:n.1357A>C | ||
| NR_148392.2:n.1575A>C | ||
| NR_148393.2:n.1357A>C | ||
| NR_148394.2:n.1250A>C | ||
| NR_148395.2:n.1509A>C | ||
| NR_148396.2:n.1143A>C | ||
| NR_148397.2:n.1407A>C | ||
| NR_148398.2:n.1362A>C | ||
| NR_148399.2:n.1749A>C | ||
| NR_148400.2:n.1348A>C |