Linked Data
ClinVar Variation Id:
509787
dbSNP Id:
rs200780140
gnomAD v3:
9-131510068-T-C
gnomAD v4:
9-131510068-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131510068T>C , CM000671.2:g.131510068T>C | GRCh38 |
| NC_000009.11:g.134385455T>C , CM000671.1:g.134385455T>C | GRCh37 |
| NC_000009.10:g.133375276T>C | NCBI36 |
| NG_008896.1:g.12167T>C | |
| NG_008896.2:g.12167T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.537+72T>C | ENSP00000343034.7:n.537+72T>C | |
| ENST00000404875.7:n.880T>C | ||
| ENST00000423007.6:c.756+6T>C | ENSP00000404119.2:n.756+6T>C | |
| ENST00000677295.2:c.*847T>C | ENSP00000504346.2:n.*847T>C | |
| ENST00000678264.2:c.*882+72T>C | ENSP00000503157.2:n.*882+72T>C | |
| ENST00000678942.2:c.*61T>C | ENSP00000504690.2:n.*61T>C | |
| ENST00000682070.1:n.968T>C | ||
| ENST00000682813.1:n.773T>C | ||
| ENST00000683134.1:c.67-192T>C | ||
| ENST00000683392.1:n.3255T>C | ||
| ENST00000683712.1:n.908T>C | ||
| ENST00000683855.1:n.166T>C | ||
| ENST00000683900.1:n.1835T>C | ||
| ENST00000684062.1:n.1174T>C | ||
| ENST00000684579.1:n.2349T>C | ||
| ENST00000341012.12:c.537+72T>C | ENSP00000343034.7:n.537+72T>C | |
| ENST00000372220.5:c.-145-1973T>C | ENSP00000361294.5:n.-145-1973T>C | |
| ENST00000372228.9:c.765+6T>C | ENSP00000361302.3:n.765+6T>C | |
| ENST00000402686.8:c.699+72T>C MANE Select | ENSP00000385797.4:n.699+72T>C | |
| ENST00000415075.6:c.*250-289T>C | ENSP00000405149.2:n.*250-289T>C | |
| ENST00000430619.2:c.309+6T>C | ENSP00000402083.2:n.309+6T>C | |
| ENST00000462375.6:n.595T>C | ||
| ENST00000676640.1:c.699+72T>C | ENSP00000503281.1:n.699+72T>C | |
| ENST00000676803.1:c.-126-192T>C | ENSP00000503093.1:n.-126-192T>C | |
| ENST00000676835.1:c.189-192T>C | ENSP00000502911.1:n.189-192T>C | |
| ENST00000677029.1:c.243+72T>C | ENSP00000502936.1:n.243+72T>C | |
| ENST00000677099.1:c.*409+72T>C | ENSP00000504553.1:n.*409+72T>C | |
| ENST00000677216.1:c.348+72T>C | ENSP00000503772.1:n.348+72T>C | |
| ENST00000677293.1:c.-29-289T>C | ENSP00000504278.1:n.-29-289T>C | |
| ENST00000677295.1:c.609T>C | ENSP00000504346.1:p.Leu203= | |
| ENST00000677444.1:c.314T>C | ||
| ENST00000677586.1:n.181-192T>C | ||
| ENST00000677626.1:c.537+72T>C | ENSP00000503552.1:n.537+72T>C | |
| ENST00000677677.1:n.659+72T>C | ||
| ENST00000677729.1:c.*218T>C | ENSP00000503581.1:n.*218T>C | |
| ENST00000677853.1:c.378-289T>C | ENSP00000503488.1:n.378-289T>C | |
| ENST00000677944.1:c.59-289T>C | ||
| ENST00000678264.1:c.771T>C | ENSP00000503157.1:p.Leu257= | |
| ENST00000678303.1:c.609+72T>C | ENSP00000503696.1:n.609+72T>C | |
| ENST00000678366.1:c.*948+6T>C | ENSP00000504353.1:n.*948+6T>C | |
| ENST00000678546.1:c.609T>C | ENSP00000503062.1:p.Leu203= | |
| ENST00000678548.1:c.*575T>C | ENSP00000503934.1:n.*575T>C | |
| ENST00000678626.1:n.391+72T>C | ||
| ENST00000678693.1:n.454T>C | ||
| ENST00000678707.1:n.337+72T>C | ||
| ENST00000678739.1:c.*829T>C | ENSP00000503806.1:n.*829T>C | |
| ENST00000678833.1:c.*146+72T>C | ENSP00000503893.1:n.*146+72T>C | |
| ENST00000679023.1:c.537+72T>C | ENSP00000503718.1:n.537+72T>C | |
| ENST00000679076.1:c.410+72T>C | ||
| ENST00000679111.1:c.699+72T>C | ENSP00000504257.1:n.699+72T>C | |
| ENST00000679189.1:c.348+72T>C | ENSP00000503356.1:n.348+72T>C | |
| ENST00000341012.11:c.537+72T>C | ENSP00000343034.7:n.537+72T>C | |
| ENST00000372228.7:c.765+6T>C | ENSP00000361302.3:n.765+6T>C | |
| ENST00000402686.7:c.699+72T>C | ENSP00000385797.3:n.699+72T>C | |
| ENST00000404875.6:c.348+72T>C | ENSP00000384531.2:n.348+72T>C | |
| ENST00000415075.5:c.189-289T>C | ENSP00000405149.1:n.189-289T>C | |
| ENST00000423007.5:c.699+72T>C | ENSP00000404119.1:n.699+72T>C | |
| ENST00000430619.1:c.348+72T>C | ENSP00000402083.1:n.348+72T>C | |
| ENST00000441334.5:c.414+6T>C | ENSP00000395060.1:n.414+6T>C | |
| ENST00000448212.5:c.603+6T>C | ENSP00000403736.1:n.603+6T>C | |
| ENST00000462375.5:n.329T>C | ||
| NM_001077365.1:c.699+72T>C | NP_001070833.1:n.699+72T>C | |
| NM_001077366.1:c.537+72T>C | NP_001070834.1:n.537+72T>C | |
| NM_001136113.1:c.699+72T>C | NP_001129585.1:n.699+72T>C | |
| NM_001136114.1:c.348+72T>C | NP_001129586.1:n.348+72T>C | |
| NM_007171.3:c.765+6T>C | NP_009102.3:n.765+6T>C | |
| XM_005272156.1:c.765+6T>C | XP_005272213.1:n.765+6T>C | |
| XM_005272158.1:c.603+6T>C | XP_005272215.1:n.603+6T>C | |
| XM_005272159.1:c.414+6T>C | XP_005272216.1:n.414+6T>C | |
| XM_005272162.1:c.-629T>C | XP_005272219.1:n.-629T>C | |
| XM_006716932.1:c.414+6T>C | XP_006716995.1:n.414+6T>C | |
| XM_011518140.1:c.618+6T>C | XP_011516442.1:n.618+6T>C | |
| XM_011518141.1:c.552+72T>C | XP_011516443.1:n.552+72T>C | |
| XM_011518142.1:c.456+6T>C | XP_011516444.1:n.456+6T>C | |
| XM_011518143.1:c.445+72T>C | XP_011516445.1:n.445+72T>C | |
| XM_011518144.1:c.765+6T>C | XP_011516446.1:n.765+6T>C | |
| XM_011518145.1:c.309+6T>C | XP_011516447.1:n.309+6T>C | |
| XM_011518146.1:c.445+72T>C | XP_011516448.1:n.445+72T>C | |
| XR_929703.1:n.941+6T>C | ||
| NM_001353193.1:c.765+6T>C | NP_001340122.1:n.765+6T>C | |
| NM_001353194.1:c.537+72T>C | NP_001340123.1:n.537+72T>C | |
| NM_001353195.1:c.348+72T>C | NP_001340124.1:n.348+72T>C | |
| NM_001353196.1:c.609+72T>C | NP_001340125.1:n.609+72T>C | |
| NM_001353197.1:c.603+6T>C | NP_001340126.1:n.603+6T>C | |
| NM_001353198.1:c.603+6T>C | NP_001340127.1:n.603+6T>C | |
| NM_001353199.1:c.414+6T>C | NP_001340128.1:n.414+6T>C | |
| NM_001353200.1:c.243+72T>C | NP_001340129.1:n.243+72T>C | |
| NR_148391.1:n.749+72T>C | ||
| NR_148392.1:n.967+6T>C | ||
| NR_148393.1:n.749+72T>C | ||
| NR_148394.1:n.637+72T>C | ||
| NR_148395.1:n.901+72T>C | ||
| NR_148396.1:n.530+72T>C | ||
| NR_148397.1:n.794+72T>C | ||
| NR_148398.1:n.749+72T>C | ||
| NR_148399.1:n.1141+72T>C | ||
| NR_148400.1:n.735+72T>C | ||
| XM_005272162.3:c.-629T>C | XP_005272219.1:n.-629T>C | |
| XM_006716932.2:c.414+6T>C | XP_006716995.1:n.414+6T>C | |
| XM_011518140.2:c.618+6T>C | XP_011516442.1:n.618+6T>C | |
| XM_011518141.2:c.552+72T>C | XP_011516443.1:n.552+72T>C | |
| XM_011518142.2:c.456+6T>C | XP_011516444.1:n.456+6T>C | |
| XM_011518143.2:c.445+72T>C | XP_011516445.1:n.445+72T>C | |
| XM_011518145.2:c.309+6T>C | XP_011516447.1:n.309+6T>C | |
| XM_017014205.2:c.-438+6T>C | XP_016869694.1:n.-438+6T>C | |
| XM_024447380.1:c.-438+72T>C | XP_024303148.1:n.-438+72T>C | |
| XM_024447381.1:c.-318T>C | XP_024303149.1:n.-318T>C | |
| XM_024447382.1:c.-629T>C | XP_024303150.1:n.-629T>C | |
| XR_001746160.2:n.869+72T>C | ||
| XR_001746162.2:n.935+6T>C | ||
| XR_001746164.1:n.647+72T>C | ||
| XR_001746166.2:n.895T>C | ||
| NM_001077365.2:c.699+72T>C MANE Select | NP_001070833.1:n.699+72T>C | |
| NM_001077366.2:c.537+72T>C | NP_001070834.1:n.537+72T>C | |
| NM_001136113.2:c.699+72T>C | NP_001129585.1:n.699+72T>C | |
| NM_001136114.2:c.348+72T>C | NP_001129586.1:n.348+72T>C | |
| NM_001353193.2:c.765+6T>C | NP_001340122.2:n.765+6T>C | |
| NM_001353194.2:c.537+72T>C | NP_001340123.1:n.537+72T>C | |
| NM_001353195.2:c.348+72T>C | NP_001340124.1:n.348+72T>C | |
| NM_001353196.2:c.609+72T>C | NP_001340125.1:n.609+72T>C | |
| NM_001353197.2:c.603+6T>C | NP_001340126.2:n.603+6T>C | |
| NM_001353198.2:c.603+6T>C | NP_001340127.2:n.603+6T>C | |
| NM_001353199.2:c.414+6T>C | NP_001340128.2:n.414+6T>C | |
| NM_001353200.2:c.243+72T>C | NP_001340129.1:n.243+72T>C | |
| NM_001374689.1:c.609T>C | NP_001361618.1:p.Leu203= | |
| NM_001374690.1:c.699+72T>C | NP_001361619.1:n.699+72T>C | |
| NM_001374691.1:c.348+72T>C | NP_001361620.1:n.348+72T>C | |
| NM_001374692.1:c.348+72T>C | NP_001361621.1:n.348+72T>C | |
| NM_001374693.1:c.537+72T>C | NP_001361622.1:n.537+72T>C | |
| NM_001374695.1:c.309+6T>C | NP_001361624.1:n.309+6T>C | |
| NM_007171.4:c.765+6T>C | NP_009102.4:n.765+6T>C | |
| NR_148391.2:n.733+72T>C | ||
| NR_148392.2:n.951+6T>C | ||
| NR_148393.2:n.733+72T>C | ||
| NR_148394.2:n.621+72T>C | ||
| NR_148395.2:n.885+72T>C | ||
| NR_148396.2:n.514+72T>C | ||
| NR_148397.2:n.778+72T>C | ||
| NR_148398.2:n.733+72T>C | ||
| NR_148399.2:n.1125+72T>C | ||
| NR_148400.2:n.719+72T>C |