Linked Data
ClinVar Variation Id:
95452
dbSNP Id:
rs200056620
ExAC:
9:134388630 C / T
gnomAD v2:
9-134388630-C-T
gnomAD v3:
9-131513243-C-T
gnomAD v4:
9-131513243-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131513243C>T , CM000671.2:g.131513243C>T | GRCh38 |
| NC_000009.11:g.134388630C>T , CM000671.1:g.134388630C>T | GRCh37 |
| NC_000009.10:g.133378451C>T | NCBI36 |
| NG_008896.1:g.15342C>T | |
| NG_008896.2:g.15342C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.925C>T | ENSP00000343034.7:p.Gln309Ter | |
| ENST00000404875.7:n.1627C>T | ||
| ENST00000423007.6:c.1144C>T | ENSP00000404119.2:p.Gln382Ter | |
| ENST00000677295.2:c.*1431C>T | ENSP00000504346.2:n.*1431C>T | |
| ENST00000678264.2:c.*1270C>T | ENSP00000503157.2:n.*1270C>T | |
| ENST00000678942.2:c.*640C>T | ENSP00000504690.2:n.*640C>T | |
| ENST00000682070.1:n.1552C>T | ||
| ENST00000682813.1:n.1352C>T | ||
| ENST00000683392.1:n.3834C>T | ||
| ENST00000683712.1:n.1492C>T | ||
| ENST00000683900.1:n.2987C>T | ||
| ENST00000684062.1:n.1753C>T | ||
| ENST00000684579.1:n.2933C>T | ||
| ENST00000341012.12:c.925C>T | ENSP00000343034.7:p.Gln309Ter | |
| ENST00000372220.5:c.-45C>T | ENSP00000361294.5:n.-45C>T | |
| ENST00000372228.9:c.1153C>T | ENSP00000361302.3:p.Gln385Ter | |
| ENST00000402686.8:c.1087C>T MANE Select | ENSP00000385797.4:p.Gln363Ter | |
| ENST00000676640.1:c.1087C>T | ENSP00000503281.1:p.Gln363Ter | |
| ENST00000676803.1:c.262C>T | ENSP00000503093.1:p.Gln88Ter | |
| ENST00000676835.1:c.*302C>T | ENSP00000502911.1:n.*302C>T | |
| ENST00000677029.1:c.631C>T | ENSP00000502936.1:p.Gln211Ter | |
| ENST00000677099.1:c.*797C>T | ENSP00000504553.1:n.*797C>T | |
| ENST00000677216.1:c.736C>T | ENSP00000503772.1:p.Gln246Ter | |
| ENST00000677293.1:c.262C>T | ENSP00000504278.1:p.Gln88Ter | |
| ENST00000677295.1:c.*464C>T | ENSP00000504346.1:n.*464C>T | |
| ENST00000677444.1:c.893C>T | ||
| ENST00000677586.1:n.568C>T | ||
| ENST00000677626.1:c.824+1776C>T | ENSP00000503552.1:n.824+1776C>T | |
| ENST00000677677.1:n.1047C>T | ||
| ENST00000677853.1:c.*95C>T | ENSP00000503488.1:n.*95C>T | |
| ENST00000677944.1:c.349C>T | ||
| ENST00000678264.1:c.*464C>T | ENSP00000503157.1:n.*464C>T | |
| ENST00000678303.1:c.997C>T | ENSP00000503696.1:p.Gln333Ter | |
| ENST00000678366.1:c.*1336C>T | ENSP00000504353.1:n.*1336C>T | |
| ENST00000678546.1:c.*1032C>T | ENSP00000503062.1:n.*1032C>T | |
| ENST00000678548.1:c.*1159C>T | ENSP00000503934.1:n.*1159C>T | |
| ENST00000678626.1:n.784C>T | ||
| ENST00000678733.1:c.256+1107C>T | ||
| ENST00000678739.1:c.*1413C>T | ENSP00000503806.1:n.*1413C>T | |
| ENST00000678795.1:n.174C>T | ||
| ENST00000678833.1:c.*534C>T | ENSP00000503893.1:n.*534C>T | |
| ENST00000678942.1:c.267C>T | ENSP00000504690.1:n.267C>T | |
| ENST00000679023.1:c.925C>T | ENSP00000503718.1:p.Gln309Ter | |
| ENST00000679073.1:c.465C>T | ENSP00000504356.1:n.465C>T | |
| ENST00000679076.1:c.706C>T | ||
| ENST00000679111.1:c.1087C>T | ENSP00000504257.1:p.Gln363Ter | |
| ENST00000679189.1:c.736C>T | ENSP00000503356.1:p.Gln246Ter | |
| ENST00000341012.11:c.925C>T | ENSP00000343034.7:p.Gln309Ter | |
| ENST00000372228.7:c.1153C>T | ENSP00000361302.3:p.Gln385Ter | |
| ENST00000402686.7:c.1087C>T | ENSP00000385797.3:p.Gln363Ter | |
| ENST00000404875.6:c.736C>T | ENSP00000384531.2:p.Gln246Ter | |
| ENST00000423007.5:c.1087C>T | ENSP00000404119.1:p.Gln363Ter | |
| ENST00000441334.5:c.802C>T | ENSP00000395060.1:p.Gln268Ter | |
| ENST00000462375.5:n.913C>T | ||
| ENST00000485278.5:n.1642C>T | ||
| NM_001077365.1:c.1087C>T | NP_001070833.1:p.Gln363Ter | |
| NM_001077366.1:c.925C>T | NP_001070834.1:p.Gln309Ter | |
| NM_001136113.1:c.1087C>T | NP_001129585.1:p.Gln363Ter | |
| NM_001136114.1:c.736C>T | NP_001129586.1:p.Gln246Ter | |
| NM_007171.3:c.1153C>T | NP_009102.3:p.Gln385Ter | |
| XM_005272156.1:c.1153C>T | XP_005272213.1:p.Gln385Ter | |
| XM_005272158.1:c.991C>T | XP_005272215.1:p.Gln331Ter | |
| XM_005272159.1:c.802C>T | XP_005272216.1:p.Gln268Ter | |
| XM_005272162.1:c.-45C>T | XP_005272219.1:n.-45C>T | |
| XM_006716932.1:c.802C>T | XP_006716995.1:p.Gln268Ter | |
| XM_011518140.1:c.1006C>T | XP_011516442.1:p.Gln336Ter | |
| XM_011518141.1:c.940C>T | XP_011516443.1:p.Gln314Ter | |
| XM_011518142.1:c.844C>T | XP_011516444.1:p.Gln282Ter | |
| XM_011518143.1:c.838C>T | XP_011516445.1:p.Gln280Ter | |
| XM_011518144.1:c.1153C>T | XP_011516446.1:p.Gln385Ter | |
| XM_011518145.1:c.697C>T | XP_011516447.1:p.Gln233Ter | |
| XM_011518146.1:c.838C>T | XP_011516448.1:p.Gln280Ter | |
| XR_929703.1:n.1329C>T | ||
| NM_001353193.1:c.1153C>T | NP_001340122.1:p.Gln385Ter | |
| NM_001353194.1:c.925C>T | NP_001340123.1:p.Gln309Ter | |
| NM_001353195.1:c.736C>T | NP_001340124.1:p.Gln246Ter | |
| NM_001353196.1:c.997C>T | NP_001340125.1:p.Gln333Ter | |
| NM_001353197.1:c.991C>T | NP_001340126.1:p.Gln331Ter | |
| NM_001353198.1:c.991C>T | NP_001340127.1:p.Gln331Ter | |
| NM_001353199.1:c.802C>T | NP_001340128.1:p.Gln268Ter | |
| NM_001353200.1:c.631C>T | NP_001340129.1:p.Gln211Ter | |
| NR_148391.1:n.1137C>T | ||
| NR_148392.1:n.1355C>T | ||
| NR_148393.1:n.1137C>T | ||
| NR_148394.1:n.1030C>T | ||
| NR_148395.1:n.1289C>T | ||
| NR_148396.1:n.923C>T | ||
| NR_148397.1:n.1187C>T | ||
| NR_148398.1:n.1142C>T | ||
| NR_148399.1:n.1529C>T | ||
| NR_148400.1:n.1128C>T | ||
| XM_005272162.3:c.-45C>T | XP_005272219.1:n.-45C>T | |
| XM_006716932.2:c.802C>T | XP_006716995.1:p.Gln268Ter | |
| XM_011518140.2:c.1006C>T | XP_011516442.1:p.Gln336Ter | |
| XM_011518141.2:c.940C>T | XP_011516443.1:p.Gln314Ter | |
| XM_011518142.2:c.844C>T | XP_011516444.1:p.Gln282Ter | |
| XM_011518143.2:c.838C>T | XP_011516445.1:p.Gln280Ter | |
| XM_011518145.2:c.697C>T | XP_011516447.1:p.Gln233Ter | |
| XM_017014205.2:c.-45C>T | XP_016869694.1:n.-45C>T | |
| XM_024447380.1:c.-45C>T | XP_024303148.1:n.-45C>T | |
| XM_024447381.1:c.262C>T | XP_024303149.1:p.Gln88Ter | |
| XM_024447382.1:c.-45C>T | XP_024303150.1:n.-45C>T | |
| XR_001746160.2:n.1257C>T | ||
| XR_001746162.2:n.1323C>T | ||
| XR_001746164.1:n.1040C>T | ||
| XR_001746166.2:n.1474C>T | ||
| NM_001077365.2:c.1087C>T MANE Select | NP_001070833.1:p.Gln363Ter | |
| NM_001077366.2:c.925C>T | NP_001070834.1:p.Gln309Ter | |
| NM_001136113.2:c.1087C>T | NP_001129585.1:p.Gln363Ter | |
| NM_001136114.2:c.736C>T | NP_001129586.1:p.Gln246Ter | |
| NM_001353193.2:c.1153C>T | NP_001340122.2:p.Gln385Ter | |
| NM_001353194.2:c.925C>T | NP_001340123.1:p.Gln309Ter | |
| NM_001353195.2:c.736C>T | NP_001340124.1:p.Gln246Ter | |
| NM_001353196.2:c.997C>T | NP_001340125.1:p.Gln333Ter | |
| NM_001353197.2:c.991C>T | NP_001340126.2:p.Gln331Ter | |
| NM_001353198.2:c.991C>T | NP_001340127.2:p.Gln331Ter | |
| NM_001353199.2:c.802C>T | NP_001340128.2:p.Gln268Ter | |
| NM_001353200.2:c.631C>T | NP_001340129.1:p.Gln211Ter | |
| NM_001374689.1:c.1075C>T | NP_001361618.1:p.Gln359Ter | |
| NM_001374690.1:c.1087C>T | NP_001361619.1:p.Gln363Ter | |
| NM_001374691.1:c.736C>T | NP_001361620.1:p.Gln246Ter | |
| NM_001374692.1:c.736C>T | NP_001361621.1:p.Gln246Ter | |
| NM_001374693.1:c.824+1776C>T | NP_001361622.1:n.824+1776C>T | |
| NM_001374695.1:c.697C>T | NP_001361624.1:p.Gln233Ter | |
| NM_007171.4:c.1153C>T | NP_009102.4:p.Gln385Ter | |
| NR_148391.2:n.1121C>T | ||
| NR_148392.2:n.1339C>T | ||
| NR_148393.2:n.1121C>T | ||
| NR_148394.2:n.1014C>T | ||
| NR_148395.2:n.1273C>T | ||
| NR_148396.2:n.907C>T | ||
| NR_148397.2:n.1171C>T | ||
| NR_148398.2:n.1126C>T | ||
| NR_148399.2:n.1513C>T | ||
| NR_148400.2:n.1112C>T |