Linked Data
ClinVar Variation Id:
3243
ClinVar RCV Id:
RCV000003399
RCV000179928
RCV001264826
RCV001385876
RCV001813942
RCV003234890
RCV003472966
dbSNP Id:
rs119462982
ExAC:
9:134385188 G / C
gnomAD v2:
9-134385188-G-C
gnomAD v4:
9-131509801-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131509801G>C , CM000671.2:g.131509801G>C | GRCh38 |
| NC_000009.11:g.134385188G>C , CM000671.1:g.134385188G>C | GRCh37 |
| NC_000009.10:g.133375009G>C | NCBI36 |
| NG_008896.1:g.11900G>C | |
| NG_008896.2:g.11900G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.436G>C | ENSP00000343034.7:p.Ala146Pro | |
| ENST00000404875.7:n.707G>C | ||
| ENST00000423007.6:c.589G>C | ENSP00000404119.2:p.Ala197Pro | |
| ENST00000462375.7:n.113-102G>C | ||
| ENST00000677295.2:c.*674G>C | ENSP00000504346.2:n.*674G>C | |
| ENST00000678264.2:c.*781G>C | ENSP00000503157.2:n.*781G>C | |
| ENST00000678942.2:c.293G>C | ENSP00000504690.2:p.Cys98Ser | |
| ENST00000682070.1:n.795G>C | ||
| ENST00000682813.1:n.600G>C | ||
| ENST00000683134.1:c.59G>C | ||
| ENST00000683392.1:n.3082G>C | ||
| ENST00000683712.1:n.735G>C | ||
| ENST00000683900.1:n.1662G>C | ||
| ENST00000684062.1:n.907G>C | ||
| ENST00000684579.1:n.2176G>C | ||
| ENST00000341012.12:c.436G>C | ENSP00000343034.7:p.Ala146Pro | |
| ENST00000372220.5:c.-145-2240G>C | ENSP00000361294.5:n.-145-2240G>C | |
| ENST00000372228.9:c.598G>C | ENSP00000361302.3:p.Ala200Pro | |
| ENST00000402686.8:c.598G>C MANE Select | ENSP00000385797.4:p.Ala200Pro | |
| ENST00000415075.6:c.*250-556G>C | ENSP00000405149.2:n.*250-556G>C | |
| ENST00000430619.2:c.142G>C | ENSP00000402083.2:p.Ala48Pro | |
| ENST00000462375.6:n.422G>C | ||
| ENST00000676640.1:c.598G>C | ENSP00000503281.1:p.Ala200Pro | |
| ENST00000676803.1:c.-126-459G>C | ENSP00000503093.1:n.-126-459G>C | |
| ENST00000676835.1:c.189-459G>C | ENSP00000502911.1:n.189-459G>C | |
| ENST00000676915.1:c.451G>C | ENSP00000504628.1:p.Ala151Pro | |
| ENST00000677028.1:c.*45G>C | ENSP00000503896.1:n.*45G>C | |
| ENST00000677029.1:c.142G>C | ENSP00000502936.1:p.Ala48Pro | |
| ENST00000677099.1:c.*308G>C | ENSP00000504553.1:n.*308G>C | |
| ENST00000677216.1:c.247G>C | ENSP00000503772.1:p.Ala83Pro | |
| ENST00000677293.1:c.-29-556G>C | ENSP00000504278.1:n.-29-556G>C | |
| ENST00000677295.1:c.436G>C | ENSP00000504346.1:p.Ala146Pro | |
| ENST00000677444.1:c.141G>C | ||
| ENST00000677586.1:n.181-459G>C | ||
| ENST00000677626.1:c.436G>C | ENSP00000503552.1:p.Ala146Pro | |
| ENST00000677677.1:n.558G>C | ||
| ENST00000677729.1:c.*45G>C | ENSP00000503581.1:n.*45G>C | |
| ENST00000677853.1:c.378-556G>C | ENSP00000503488.1:n.378-556G>C | |
| ENST00000677944.1:c.59-556G>C | ||
| ENST00000678264.1:c.598G>C | ENSP00000503157.1:p.Ala200Pro | |
| ENST00000678303.1:c.508G>C | ENSP00000503696.1:p.Ala170Pro | |
| ENST00000678366.1:c.*781G>C | ENSP00000504353.1:n.*781G>C | |
| ENST00000678546.1:c.436G>C | ENSP00000503062.1:p.Ala146Pro | |
| ENST00000678548.1:c.*308G>C | ENSP00000503934.1:n.*308G>C | |
| ENST00000678626.1:n.290G>C | ||
| ENST00000678693.1:n.281G>C | ||
| ENST00000678707.1:n.236G>C | ||
| ENST00000678739.1:c.*656G>C | ENSP00000503806.1:n.*656G>C | |
| ENST00000678833.1:c.*45G>C | ENSP00000503893.1:n.*45G>C | |
| ENST00000679023.1:c.436G>C | ENSP00000503718.1:p.Ala146Pro | |
| ENST00000679076.1:c.309G>C | ||
| ENST00000679111.1:c.598G>C | ENSP00000504257.1:p.Ala200Pro | |
| ENST00000679189.1:c.247G>C | ENSP00000503356.1:p.Ala83Pro | |
| ENST00000341012.11:c.436G>C | ENSP00000343034.7:p.Ala146Pro | |
| ENST00000372228.7:c.598G>C | ENSP00000361302.3:p.Ala200Pro | |
| ENST00000402686.7:c.598G>C | ENSP00000385797.3:p.Ala200Pro | |
| ENST00000404875.6:c.247G>C | ENSP00000384531.2:p.Ala83Pro | |
| ENST00000415075.5:c.189-556G>C | ENSP00000405149.1:n.189-556G>C | |
| ENST00000423007.5:c.598G>C | ENSP00000404119.1:p.Ala200Pro | |
| ENST00000430619.1:c.247G>C | ENSP00000402083.1:p.Ala83Pro | |
| ENST00000441334.5:c.247G>C | ENSP00000395060.1:p.Ala83Pro | |
| ENST00000448212.5:c.436G>C | ENSP00000403736.1:p.Ala146Pro | |
| ENST00000462375.5:n.156G>C | ||
| NM_001077365.1:c.598G>C | NP_001070833.1:p.Ala200Pro | |
| NM_001077366.1:c.436G>C | NP_001070834.1:p.Ala146Pro | |
| NM_001136113.1:c.598G>C | NP_001129585.1:p.Ala200Pro | |
| NM_001136114.1:c.247G>C | NP_001129586.1:p.Ala83Pro | |
| NM_007171.3:c.598G>C | NP_009102.3:p.Ala200Pro | |
| XM_005272156.1:c.598G>C | XP_005272213.1:p.Ala200Pro | |
| XM_005272158.1:c.436G>C | XP_005272215.1:p.Ala146Pro | |
| XM_005272159.1:c.247G>C | XP_005272216.1:p.Ala83Pro | |
| XM_005272162.1:c.-802G>C | XP_005272219.1:n.-802G>C | |
| XM_006716932.1:c.247G>C | XP_006716995.1:p.Ala83Pro | |
| XM_011518140.1:c.451G>C | XP_011516442.1:p.Ala151Pro | |
| XM_011518141.1:c.451G>C | XP_011516443.1:p.Ala151Pro | |
| XM_011518142.1:c.289G>C | XP_011516444.1:p.Ala97Pro | |
| XM_011518143.1:c.344G>C | XP_011516445.1:p.Cys115Ser | |
| XM_011518144.1:c.598G>C | XP_011516446.1:p.Ala200Pro | |
| XM_011518145.1:c.142G>C | XP_011516447.1:p.Ala48Pro | |
| XM_011518146.1:c.344G>C | XP_011516448.1:p.Cys115Ser | |
| XR_929703.1:n.774G>C | ||
| NM_001353193.1:c.598G>C | NP_001340122.1:p.Ala200Pro | |
| NM_001353194.1:c.436G>C | NP_001340123.1:p.Ala146Pro | |
| NM_001353195.1:c.247G>C | NP_001340124.1:p.Ala83Pro | |
| NM_001353196.1:c.508G>C | NP_001340125.1:p.Ala170Pro | |
| NM_001353197.1:c.436G>C | NP_001340126.1:p.Ala146Pro | |
| NM_001353198.1:c.436G>C | NP_001340127.1:p.Ala146Pro | |
| NM_001353199.1:c.247G>C | NP_001340128.1:p.Ala83Pro | |
| NM_001353200.1:c.142G>C | NP_001340129.1:p.Ala48Pro | |
| NR_148391.1:n.648G>C | ||
| NR_148392.1:n.800G>C | ||
| NR_148393.1:n.648G>C | ||
| NR_148394.1:n.536G>C | ||
| NR_148395.1:n.800G>C | ||
| NR_148396.1:n.429G>C | ||
| NR_148397.1:n.693G>C | ||
| NR_148398.1:n.648G>C | ||
| NR_148399.1:n.1040G>C | ||
| NR_148400.1:n.634G>C | ||
| XM_005272162.3:c.-802G>C | XP_005272219.1:n.-802G>C | |
| XM_006716932.2:c.247G>C | XP_006716995.1:p.Ala83Pro | |
| XM_011518140.2:c.451G>C | XP_011516442.1:p.Ala151Pro | |
| XM_011518141.2:c.451G>C | XP_011516443.1:p.Ala151Pro | |
| XM_011518142.2:c.289G>C | XP_011516444.1:p.Ala97Pro | |
| XM_011518143.2:c.344G>C | XP_011516445.1:p.Cys115Ser | |
| XM_011518145.2:c.142G>C | XP_011516447.1:p.Ala48Pro | |
| XM_017014205.2:c.-605G>C | XP_016869694.1:n.-605G>C | |
| XM_024447380.1:c.-539G>C | XP_024303148.1:n.-539G>C | |
| XM_024447381.1:c.-491G>C | XP_024303149.1:n.-491G>C | |
| XM_024447382.1:c.-802G>C | XP_024303150.1:n.-802G>C | |
| XR_001746160.2:n.768G>C | ||
| XR_001746162.2:n.768G>C | ||
| XR_001746164.1:n.546G>C | ||
| XR_001746166.2:n.722G>C | ||
| NM_001077365.2:c.598G>C MANE Select | NP_001070833.1:p.Ala200Pro | |
| NM_001077366.2:c.436G>C | NP_001070834.1:p.Ala146Pro | |
| NM_001136113.2:c.598G>C | NP_001129585.1:p.Ala200Pro | |
| NM_001136114.2:c.247G>C | NP_001129586.1:p.Ala83Pro | |
| NM_001353193.2:c.598G>C | NP_001340122.2:p.Ala200Pro | |
| NM_001353194.2:c.436G>C | NP_001340123.1:p.Ala146Pro | |
| NM_001353195.2:c.247G>C | NP_001340124.1:p.Ala83Pro | |
| NM_001353196.2:c.508G>C | NP_001340125.1:p.Ala170Pro | |
| NM_001353197.2:c.436G>C | NP_001340126.2:p.Ala146Pro | |
| NM_001353198.2:c.436G>C | NP_001340127.2:p.Ala146Pro | |
| NM_001353199.2:c.247G>C | NP_001340128.2:p.Ala83Pro | |
| NM_001353200.2:c.142G>C | NP_001340129.1:p.Ala48Pro | |
| NM_001374689.1:c.436G>C | NP_001361618.1:p.Ala146Pro | |
| NM_001374690.1:c.598G>C | NP_001361619.1:p.Ala200Pro | |
| NM_001374691.1:c.247G>C | NP_001361620.1:p.Ala83Pro | |
| NM_001374692.1:c.247G>C | NP_001361621.1:p.Ala83Pro | |
| NM_001374693.1:c.436G>C | NP_001361622.1:p.Ala146Pro | |
| NM_001374695.1:c.142G>C | NP_001361624.1:p.Ala48Pro | |
| NM_007171.4:c.598G>C | NP_009102.4:p.Ala200Pro | |
| NR_148391.2:n.632G>C | ||
| NR_148392.2:n.784G>C | ||
| NR_148393.2:n.632G>C | ||
| NR_148394.2:n.520G>C | ||
| NR_148395.2:n.784G>C | ||
| NR_148396.2:n.413G>C | ||
| NR_148397.2:n.677G>C | ||
| NR_148398.2:n.632G>C | ||
| NR_148399.2:n.1024G>C | ||
| NR_148400.2:n.618G>C |