Linked Data
ClinVar Variation Id:
285055
dbSNP Id:
rs146869947
ExAC:
9:134388669 G / A
gnomAD v2:
9-134388669-G-A
gnomAD v3:
9-131513282-G-A
gnomAD v4:
9-131513282-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131513282G>A , CM000671.2:g.131513282G>A | GRCh38 |
| NC_000009.11:g.134388669G>A , CM000671.1:g.134388669G>A | GRCh37 |
| NC_000009.10:g.133378490G>A | NCBI36 |
| NG_008896.1:g.15381G>A | |
| NG_008896.2:g.15381G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.964G>A | ENSP00000343034.7:p.Gly322Arg | |
| ENST00000404875.7:n.1666G>A | ||
| ENST00000423007.6:c.1183G>A | ENSP00000404119.2:p.Gly395Arg | |
| ENST00000677295.2:c.*1470G>A | ENSP00000504346.2:n.*1470G>A | |
| ENST00000678264.2:c.*1309G>A | ENSP00000503157.2:n.*1309G>A | |
| ENST00000678942.2:c.*679G>A | ENSP00000504690.2:n.*679G>A | |
| ENST00000682070.1:n.1591G>A | ||
| ENST00000682813.1:n.1391G>A | ||
| ENST00000683392.1:n.3873G>A | ||
| ENST00000683712.1:n.1531G>A | ||
| ENST00000683900.1:n.3026G>A | ||
| ENST00000684062.1:n.1792G>A | ||
| ENST00000684579.1:n.2972G>A | ||
| ENST00000341012.12:c.964G>A | ENSP00000343034.7:p.Gly322Arg | |
| ENST00000372220.5:c.-6G>A | ENSP00000361294.5:n.-6G>A | |
| ENST00000372228.9:c.1192G>A | ENSP00000361302.3:p.Gly398Arg | |
| ENST00000402686.8:c.1126G>A MANE Select | ENSP00000385797.4:p.Gly376Arg | |
| ENST00000676640.1:c.1126G>A | ENSP00000503281.1:p.Gly376Arg | |
| ENST00000676803.1:c.301G>A | ENSP00000503093.1:p.Gly101Arg | |
| ENST00000676835.1:c.*341G>A | ENSP00000502911.1:n.*341G>A | |
| ENST00000677029.1:c.670G>A | ENSP00000502936.1:p.Gly224Arg | |
| ENST00000677099.1:c.*836G>A | ENSP00000504553.1:n.*836G>A | |
| ENST00000677216.1:c.775G>A | ENSP00000503772.1:p.Gly259Arg | |
| ENST00000677293.1:c.301G>A | ENSP00000504278.1:p.Gly101Arg | |
| ENST00000677295.1:c.*503G>A | ENSP00000504346.1:n.*503G>A | |
| ENST00000677444.1:c.932G>A | ||
| ENST00000677586.1:n.607G>A | ||
| ENST00000677626.1:c.824+1815G>A | ENSP00000503552.1:n.824+1815G>A | |
| ENST00000677677.1:n.1086G>A | ||
| ENST00000677853.1:c.*134G>A | ENSP00000503488.1:n.*134G>A | |
| ENST00000677944.1:c.388G>A | ||
| ENST00000678264.1:c.*503G>A | ENSP00000503157.1:n.*503G>A | |
| ENST00000678303.1:c.1036G>A | ENSP00000503696.1:p.Gly346Arg | |
| ENST00000678366.1:c.*1375G>A | ENSP00000504353.1:n.*1375G>A | |
| ENST00000678546.1:c.*1071G>A | ENSP00000503062.1:n.*1071G>A | |
| ENST00000678548.1:c.*1198G>A | ENSP00000503934.1:n.*1198G>A | |
| ENST00000678626.1:n.823G>A | ||
| ENST00000678733.1:c.256+1146G>A | ||
| ENST00000678739.1:c.*1452G>A | ENSP00000503806.1:n.*1452G>A | |
| ENST00000678795.1:n.213G>A | ||
| ENST00000678833.1:c.*573G>A | ENSP00000503893.1:n.*573G>A | |
| ENST00000678942.1:c.306G>A | ENSP00000504690.1:n.306G>A | |
| ENST00000679023.1:c.964G>A | ENSP00000503718.1:p.Gly322Arg | |
| ENST00000679073.1:c.504G>A | ENSP00000504356.1:n.504G>A | |
| ENST00000679076.1:c.745G>A | ||
| ENST00000679111.1:c.1126G>A | ENSP00000504257.1:p.Gly376Arg | |
| ENST00000679189.1:c.775G>A | ENSP00000503356.1:p.Gly259Arg | |
| ENST00000341012.11:c.964G>A | ENSP00000343034.7:p.Gly322Arg | |
| ENST00000372228.7:c.1192G>A | ENSP00000361302.3:p.Gly398Arg | |
| ENST00000402686.7:c.1126G>A | ENSP00000385797.3:p.Gly376Arg | |
| ENST00000404875.6:c.775G>A | ENSP00000384531.2:p.Gly259Arg | |
| ENST00000423007.5:c.1126G>A | ENSP00000404119.1:p.Gly376Arg | |
| ENST00000441334.5:c.841G>A | ENSP00000395060.1:p.Gly281Arg | |
| ENST00000462375.5:n.952G>A | ||
| ENST00000485278.5:n.1681G>A | ||
| NM_001077365.1:c.1126G>A | NP_001070833.1:p.Gly376Arg | |
| NM_001077366.1:c.964G>A | NP_001070834.1:p.Gly322Arg | |
| NM_001136113.1:c.1126G>A | NP_001129585.1:p.Gly376Arg | |
| NM_001136114.1:c.775G>A | NP_001129586.1:p.Gly259Arg | |
| NM_007171.3:c.1192G>A | NP_009102.3:p.Gly398Arg | |
| XM_005272156.1:c.1192G>A | XP_005272213.1:p.Gly398Arg | |
| XM_005272158.1:c.1030G>A | XP_005272215.1:p.Gly344Arg | |
| XM_005272159.1:c.841G>A | XP_005272216.1:p.Gly281Arg | |
| XM_005272162.1:c.-6G>A | XP_005272219.1:n.-6G>A | |
| XM_006716932.1:c.841G>A | XP_006716995.1:p.Gly281Arg | |
| XM_011518140.1:c.1045G>A | XP_011516442.1:p.Gly349Arg | |
| XM_011518141.1:c.979G>A | XP_011516443.1:p.Gly327Arg | |
| XM_011518142.1:c.883G>A | XP_011516444.1:p.Gly295Arg | |
| XM_011518143.1:c.877G>A | XP_011516445.1:p.Gly293Arg | |
| XM_011518144.1:c.1192G>A | XP_011516446.1:p.Gly398Arg | |
| XM_011518145.1:c.736G>A | XP_011516447.1:p.Gly246Arg | |
| XM_011518146.1:c.877G>A | XP_011516448.1:p.Gly293Arg | |
| XR_929703.1:n.1368G>A | ||
| NM_001353193.1:c.1192G>A | NP_001340122.1:p.Gly398Arg | |
| NM_001353194.1:c.964G>A | NP_001340123.1:p.Gly322Arg | |
| NM_001353195.1:c.775G>A | NP_001340124.1:p.Gly259Arg | |
| NM_001353196.1:c.1036G>A | NP_001340125.1:p.Gly346Arg | |
| NM_001353197.1:c.1030G>A | NP_001340126.1:p.Gly344Arg | |
| NM_001353198.1:c.1030G>A | NP_001340127.1:p.Gly344Arg | |
| NM_001353199.1:c.841G>A | NP_001340128.1:p.Gly281Arg | |
| NM_001353200.1:c.670G>A | NP_001340129.1:p.Gly224Arg | |
| NR_148391.1:n.1176G>A | ||
| NR_148392.1:n.1394G>A | ||
| NR_148393.1:n.1176G>A | ||
| NR_148394.1:n.1069G>A | ||
| NR_148395.1:n.1328G>A | ||
| NR_148396.1:n.962G>A | ||
| NR_148397.1:n.1226G>A | ||
| NR_148398.1:n.1181G>A | ||
| NR_148399.1:n.1568G>A | ||
| NR_148400.1:n.1167G>A | ||
| XM_005272162.3:c.-6G>A | XP_005272219.1:n.-6G>A | |
| XM_006716932.2:c.841G>A | XP_006716995.1:p.Gly281Arg | |
| XM_011518140.2:c.1045G>A | XP_011516442.1:p.Gly349Arg | |
| XM_011518141.2:c.979G>A | XP_011516443.1:p.Gly327Arg | |
| XM_011518142.2:c.883G>A | XP_011516444.1:p.Gly295Arg | |
| XM_011518143.2:c.877G>A | XP_011516445.1:p.Gly293Arg | |
| XM_011518145.2:c.736G>A | XP_011516447.1:p.Gly246Arg | |
| XM_017014205.2:c.-6G>A | XP_016869694.1:n.-6G>A | |
| XM_024447380.1:c.-6G>A | XP_024303148.1:n.-6G>A | |
| XM_024447381.1:c.301G>A | XP_024303149.1:p.Gly101Arg | |
| XM_024447382.1:c.-6G>A | XP_024303150.1:n.-6G>A | |
| XR_001746160.2:n.1296G>A | ||
| XR_001746162.2:n.1362G>A | ||
| XR_001746164.1:n.1079G>A | ||
| XR_001746166.2:n.1513G>A | ||
| NM_001077365.2:c.1126G>A MANE Select | NP_001070833.1:p.Gly376Arg | |
| NM_001077366.2:c.964G>A | NP_001070834.1:p.Gly322Arg | |
| NM_001136113.2:c.1126G>A | NP_001129585.1:p.Gly376Arg | |
| NM_001136114.2:c.775G>A | NP_001129586.1:p.Gly259Arg | |
| NM_001353193.2:c.1192G>A | NP_001340122.2:p.Gly398Arg | |
| NM_001353194.2:c.964G>A | NP_001340123.1:p.Gly322Arg | |
| NM_001353195.2:c.775G>A | NP_001340124.1:p.Gly259Arg | |
| NM_001353196.2:c.1036G>A | NP_001340125.1:p.Gly346Arg | |
| NM_001353197.2:c.1030G>A | NP_001340126.2:p.Gly344Arg | |
| NM_001353198.2:c.1030G>A | NP_001340127.2:p.Gly344Arg | |
| NM_001353199.2:c.841G>A | NP_001340128.2:p.Gly281Arg | |
| NM_001353200.2:c.670G>A | NP_001340129.1:p.Gly224Arg | |
| NM_001374689.1:c.1114G>A | NP_001361618.1:p.Gly372Arg | |
| NM_001374690.1:c.1126G>A | NP_001361619.1:p.Gly376Arg | |
| NM_001374691.1:c.775G>A | NP_001361620.1:p.Gly259Arg | |
| NM_001374692.1:c.775G>A | NP_001361621.1:p.Gly259Arg | |
| NM_001374693.1:c.824+1815G>A | NP_001361622.1:n.824+1815G>A | |
| NM_001374695.1:c.736G>A | NP_001361624.1:p.Gly246Arg | |
| NM_007171.4:c.1192G>A | NP_009102.4:p.Gly398Arg | |
| NR_148391.2:n.1160G>A | ||
| NR_148392.2:n.1378G>A | ||
| NR_148393.2:n.1160G>A | ||
| NR_148394.2:n.1053G>A | ||
| NR_148395.2:n.1312G>A | ||
| NR_148396.2:n.946G>A | ||
| NR_148397.2:n.1210G>A | ||
| NR_148398.2:n.1165G>A | ||
| NR_148399.2:n.1552G>A | ||
| NR_148400.2:n.1151G>A |