Linked Data
ClinVar Variation Id:
286908
dbSNP Id:
rs747506380
ExAC:
9:134385794 A / C
gnomAD v2:
9-134385794-A-C
gnomAD v3:
9-131510407-A-C
gnomAD v4:
9-131510407-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131510407A>C , CM000671.2:g.131510407A>C | GRCh38 |
| NC_000009.11:g.134385794A>C , CM000671.1:g.134385794A>C | GRCh37 |
| NC_000009.10:g.133375615A>C | NCBI36 |
| NG_008896.1:g.12506A>C | |
| NG_008896.2:g.12506A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.685A>C | ENSP00000343034.7:p.Ser229Arg | |
| ENST00000404875.7:n.1219A>C | ||
| ENST00000423007.6:c.904A>C | ENSP00000404119.2:p.Ser302Arg | |
| ENST00000677295.2:c.*1186A>C | ENSP00000504346.2:n.*1186A>C | |
| ENST00000678264.2:c.*1030A>C | ENSP00000503157.2:n.*1030A>C | |
| ENST00000678942.2:c.*400A>C | ENSP00000504690.2:n.*400A>C | |
| ENST00000682070.1:n.1307A>C | ||
| ENST00000682813.1:n.1112A>C | ||
| ENST00000683134.1:c.214A>C | ||
| ENST00000683392.1:n.3594A>C | ||
| ENST00000683712.1:n.1247A>C | ||
| ENST00000683855.1:n.387A>C | ||
| ENST00000683900.1:n.2174A>C | ||
| ENST00000684062.1:n.1513A>C | ||
| ENST00000684579.1:n.2688A>C | ||
| ENST00000341012.12:c.685A>C | ENSP00000343034.7:p.Ser229Arg | |
| ENST00000372220.5:c.-145-1634A>C | ENSP00000361294.5:n.-145-1634A>C | |
| ENST00000372228.9:c.913A>C | ENSP00000361302.3:p.Ser305Arg | |
| ENST00000402686.8:c.847A>C MANE Select | ENSP00000385797.4:p.Ser283Arg | |
| ENST00000415075.6:c.*300A>C | ENSP00000405149.2:n.*300A>C | |
| ENST00000676640.1:c.847A>C | ENSP00000503281.1:p.Ser283Arg | |
| ENST00000676803.1:c.22A>C | ENSP00000503093.1:p.Ser8Arg | |
| ENST00000676835.1:c.*57A>C | ENSP00000502911.1:n.*57A>C | |
| ENST00000677029.1:c.391A>C | ENSP00000502936.1:p.Ser131Arg | |
| ENST00000677099.1:c.*557A>C | ENSP00000504553.1:n.*557A>C | |
| ENST00000677216.1:c.496A>C | ENSP00000503772.1:p.Ser166Arg | |
| ENST00000677293.1:c.22A>C | ENSP00000504278.1:p.Ser8Arg | |
| ENST00000677295.1:c.*219A>C | ENSP00000504346.1:n.*219A>C | |
| ENST00000677444.1:c.653A>C | ||
| ENST00000677586.1:n.328A>C | ||
| ENST00000677626.1:c.685A>C | ENSP00000503552.1:p.Ser229Arg | |
| ENST00000677677.1:n.807A>C | ||
| ENST00000677853.1:c.428A>C | ENSP00000503488.1:p.Gln143Pro | |
| ENST00000677944.1:c.109A>C | ||
| ENST00000678264.1:c.*219A>C | ENSP00000503157.1:n.*219A>C | |
| ENST00000678303.1:c.757A>C | ENSP00000503696.1:p.Ser253Arg | |
| ENST00000678366.1:c.*1096A>C | ENSP00000504353.1:n.*1096A>C | |
| ENST00000678546.1:c.*219A>C | ENSP00000503062.1:n.*219A>C | |
| ENST00000678548.1:c.*914A>C | ENSP00000503934.1:n.*914A>C | |
| ENST00000678626.1:n.539A>C | ||
| ENST00000678707.1:n.485A>C | ||
| ENST00000678733.1:c.21A>C | ||
| ENST00000678739.1:c.*1168A>C | ENSP00000503806.1:n.*1168A>C | |
| ENST00000678833.1:c.*294A>C | ENSP00000503893.1:n.*294A>C | |
| ENST00000678942.1:c.22A>C | ENSP00000504690.1:p.Ser8Arg | |
| ENST00000679023.1:c.685A>C | ENSP00000503718.1:p.Ser229Arg | |
| ENST00000679073.1:c.225A>C | ENSP00000504356.1:n.225A>C | |
| ENST00000679076.1:c.461A>C | ||
| ENST00000679111.1:c.847A>C | ENSP00000504257.1:p.Ser283Arg | |
| ENST00000679189.1:c.496A>C | ENSP00000503356.1:p.Ser166Arg | |
| ENST00000341012.11:c.685A>C | ENSP00000343034.7:p.Ser229Arg | |
| ENST00000372228.7:c.913A>C | ENSP00000361302.3:p.Ser305Arg | |
| ENST00000402686.7:c.847A>C | ENSP00000385797.3:p.Ser283Arg | |
| ENST00000404875.6:c.496A>C | ENSP00000384531.2:p.Ser166Arg | |
| ENST00000415075.5:c.239A>C | ENSP00000405149.1:p.Gln80Pro | |
| ENST00000423007.5:c.847A>C | ENSP00000404119.1:p.Ser283Arg | |
| ENST00000430619.1:c.496A>C | ENSP00000402083.1:p.Ser166Arg | |
| ENST00000441334.5:c.562A>C | ENSP00000395060.1:p.Ser188Arg | |
| ENST00000462375.5:n.668A>C | ||
| NM_001077365.1:c.847A>C | NP_001070833.1:p.Ser283Arg | |
| NM_001077366.1:c.685A>C | NP_001070834.1:p.Ser229Arg | |
| NM_001136113.1:c.847A>C | NP_001129585.1:p.Ser283Arg | |
| NM_001136114.1:c.496A>C | NP_001129586.1:p.Ser166Arg | |
| NM_007171.3:c.913A>C | NP_009102.3:p.Ser305Arg | |
| XM_005272156.1:c.913A>C | XP_005272213.1:p.Ser305Arg | |
| XM_005272158.1:c.751A>C | XP_005272215.1:p.Ser251Arg | |
| XM_005272159.1:c.562A>C | XP_005272216.1:p.Ser188Arg | |
| XM_005272162.1:c.-290A>C | XP_005272219.1:n.-290A>C | |
| XM_006716932.1:c.562A>C | XP_006716995.1:p.Ser188Arg | |
| XM_011518140.1:c.766A>C | XP_011516442.1:p.Ser256Arg | |
| XM_011518141.1:c.700A>C | XP_011516443.1:p.Ser234Arg | |
| XM_011518142.1:c.604A>C | XP_011516444.1:p.Ser202Arg | |
| XM_011518143.1:c.593A>C | XP_011516445.1:p.Gln198Pro | |
| XM_011518144.1:c.913A>C | XP_011516446.1:p.Ser305Arg | |
| XM_011518145.1:c.457A>C | XP_011516447.1:p.Ser153Arg | |
| XM_011518146.1:c.593A>C | XP_011516448.1:p.Gln198Pro | |
| XR_929703.1:n.1089A>C | ||
| NM_001353193.1:c.913A>C | NP_001340122.1:p.Ser305Arg | |
| NM_001353194.1:c.685A>C | NP_001340123.1:p.Ser229Arg | |
| NM_001353195.1:c.496A>C | NP_001340124.1:p.Ser166Arg | |
| NM_001353196.1:c.757A>C | NP_001340125.1:p.Ser253Arg | |
| NM_001353197.1:c.751A>C | NP_001340126.1:p.Ser251Arg | |
| NM_001353198.1:c.751A>C | NP_001340127.1:p.Ser251Arg | |
| NM_001353199.1:c.562A>C | NP_001340128.1:p.Ser188Arg | |
| NM_001353200.1:c.391A>C | NP_001340129.1:p.Ser131Arg | |
| NR_148391.1:n.897A>C | ||
| NR_148392.1:n.1115A>C | ||
| NR_148393.1:n.897A>C | ||
| NR_148394.1:n.785A>C | ||
| NR_148395.1:n.1049A>C | ||
| NR_148396.1:n.678A>C | ||
| NR_148397.1:n.942A>C | ||
| NR_148398.1:n.897A>C | ||
| NR_148399.1:n.1289A>C | ||
| NR_148400.1:n.883A>C | ||
| XM_005272162.3:c.-290A>C | XP_005272219.1:n.-290A>C | |
| XM_006716932.2:c.562A>C | XP_006716995.1:p.Ser188Arg | |
| XM_011518140.2:c.766A>C | XP_011516442.1:p.Ser256Arg | |
| XM_011518141.2:c.700A>C | XP_011516443.1:p.Ser234Arg | |
| XM_011518142.2:c.604A>C | XP_011516444.1:p.Ser202Arg | |
| XM_011518143.2:c.593A>C | XP_011516445.1:p.Gln198Pro | |
| XM_011518145.2:c.457A>C | XP_011516447.1:p.Ser153Arg | |
| XM_017014205.2:c.-290A>C | XP_016869694.1:n.-290A>C | |
| XM_024447380.1:c.-290A>C | XP_024303148.1:n.-290A>C | |
| XM_024447381.1:c.22A>C | XP_024303149.1:p.Ser8Arg | |
| XM_024447382.1:c.-290A>C | XP_024303150.1:n.-290A>C | |
| XR_001746160.2:n.1017A>C | ||
| XR_001746162.2:n.1083A>C | ||
| XR_001746164.1:n.795A>C | ||
| XR_001746166.2:n.1234A>C | ||
| NM_001077365.2:c.847A>C MANE Select | NP_001070833.1:p.Ser283Arg | |
| NM_001077366.2:c.685A>C | NP_001070834.1:p.Ser229Arg | |
| NM_001136113.2:c.847A>C | NP_001129585.1:p.Ser283Arg | |
| NM_001136114.2:c.496A>C | NP_001129586.1:p.Ser166Arg | |
| NM_001353193.2:c.913A>C | NP_001340122.2:p.Ser305Arg | |
| NM_001353194.2:c.685A>C | NP_001340123.1:p.Ser229Arg | |
| NM_001353195.2:c.496A>C | NP_001340124.1:p.Ser166Arg | |
| NM_001353196.2:c.757A>C | NP_001340125.1:p.Ser253Arg | |
| NM_001353197.2:c.751A>C | NP_001340126.2:p.Ser251Arg | |
| NM_001353198.2:c.751A>C | NP_001340127.2:p.Ser251Arg | |
| NM_001353199.2:c.562A>C | NP_001340128.2:p.Ser188Arg | |
| NM_001353200.2:c.391A>C | NP_001340129.1:p.Ser131Arg | |
| NM_001374689.1:c.830A>C | NP_001361618.1:p.Gln277Pro | |
| NM_001374690.1:c.847A>C | NP_001361619.1:p.Ser283Arg | |
| NM_001374691.1:c.496A>C | NP_001361620.1:p.Ser166Arg | |
| NM_001374692.1:c.496A>C | NP_001361621.1:p.Ser166Arg | |
| NM_001374693.1:c.685A>C | NP_001361622.1:p.Ser229Arg | |
| NM_001374695.1:c.457A>C | NP_001361624.1:p.Ser153Arg | |
| NM_007171.4:c.913A>C | NP_009102.4:p.Ser305Arg | |
| NR_148391.2:n.881A>C | ||
| NR_148392.2:n.1099A>C | ||
| NR_148393.2:n.881A>C | ||
| NR_148394.2:n.769A>C | ||
| NR_148395.2:n.1033A>C | ||
| NR_148396.2:n.662A>C | ||
| NR_148397.2:n.926A>C | ||
| NR_148398.2:n.881A>C | ||
| NR_148399.2:n.1273A>C | ||
| NR_148400.2:n.867A>C |