Linked Data
ClinVar Variation Id:
471383
dbSNP Id:
rs182295674
ExAC:
9:134384358 A / G
gnomAD v2:
9-134384358-A-G
gnomAD v3:
9-131508971-A-G
gnomAD v4:
9-131508971-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131508971A>G , CM000671.2:g.131508971A>G | GRCh38 |
| NC_000009.11:g.134384358A>G , CM000671.1:g.134384358A>G | GRCh37 |
| NC_000009.10:g.133374179A>G | NCBI36 |
| NG_008896.1:g.11070A>G | |
| NG_008896.2:g.11070A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.326A>G | ENSP00000343034.7:p.Asn109Ser | |
| ENST00000404875.7:n.597A>G | ||
| ENST00000423007.6:c.479A>G | ENSP00000404119.2:p.Asn160Ser | |
| ENST00000462375.7:n.61A>G | ||
| ENST00000677295.2:c.*564A>G | ENSP00000504346.2:n.*564A>G | |
| ENST00000678264.2:c.*671A>G | ENSP00000503157.2:n.*671A>G | |
| ENST00000678942.2:c.183A>G | ENSP00000504690.2:p.Gln61= | |
| ENST00000682070.1:n.685A>G | ||
| ENST00000682563.1:n.61A>G | ||
| ENST00000682813.1:n.490A>G | ||
| ENST00000683229.1:c.32A>G | ENSP00000506964.1:p.Asn11Ser | |
| ENST00000683392.1:n.2972A>G | ||
| ENST00000683712.1:n.625A>G | ||
| ENST00000683900.1:n.1604-772A>G | ||
| ENST00000684062.1:n.797A>G | ||
| ENST00000684579.1:n.2066A>G | ||
| ENST00000341012.12:c.326A>G | ENSP00000343034.7:p.Asn109Ser | |
| ENST00000372220.5:c.-145-3070A>G | ENSP00000361294.5:n.-145-3070A>G | |
| ENST00000372228.9:c.488A>G | ENSP00000361302.3:p.Asn163Ser | |
| ENST00000402686.8:c.488A>G MANE Select | ENSP00000385797.4:p.Asn163Ser | |
| ENST00000415075.6:c.*198A>G | ENSP00000405149.2:n.*198A>G | |
| ENST00000430619.2:c.32A>G | ENSP00000402083.2:p.Asn11Ser | |
| ENST00000462375.6:n.312A>G | ||
| ENST00000676640.1:c.488A>G | ENSP00000503281.1:p.Asn163Ser | |
| ENST00000676803.1:c.-126-1289A>G | ENSP00000503093.1:n.-126-1289A>G | |
| ENST00000676835.1:c.137A>G | ENSP00000502911.1:p.Asn46Ser | |
| ENST00000676915.1:c.341A>G | ENSP00000504628.1:p.Asn114Ser | |
| ENST00000677028.1:c.266-772A>G | ENSP00000503896.1:n.266-772A>G | |
| ENST00000677029.1:c.32A>G | ENSP00000502936.1:p.Asn11Ser | |
| ENST00000677099.1:c.*198A>G | ENSP00000504553.1:n.*198A>G | |
| ENST00000677216.1:c.137A>G | ENSP00000503772.1:p.Asn46Ser | |
| ENST00000677293.1:c.-29-1386A>G | ENSP00000504278.1:n.-29-1386A>G | |
| ENST00000677295.1:c.326A>G | ENSP00000504346.1:p.Asn109Ser | |
| ENST00000677444.1:c.31A>G | ||
| ENST00000677586.1:n.181-1289A>G | ||
| ENST00000677626.1:c.326A>G | ENSP00000503552.1:p.Asn109Ser | |
| ENST00000677677.1:n.448A>G | ||
| ENST00000677729.1:c.428-772A>G | ENSP00000503581.1:n.428-772A>G | |
| ENST00000677853.1:c.326A>G | ENSP00000503488.1:p.Asn109Ser | |
| ENST00000677944.1:c.7A>G | ||
| ENST00000678264.1:c.488A>G | ENSP00000503157.1:p.Asn163Ser | |
| ENST00000678303.1:c.398A>G | ENSP00000503696.1:p.Asn133Ser | |
| ENST00000678366.1:c.*671A>G | ENSP00000504353.1:n.*671A>G | |
| ENST00000678546.1:c.326A>G | ENSP00000503062.1:p.Asn109Ser | |
| ENST00000678548.1:c.*198A>G | ENSP00000503934.1:n.*198A>G | |
| ENST00000678626.1:n.180A>G | ||
| ENST00000678707.1:n.178-772A>G | ||
| ENST00000678739.1:c.*546A>G | ENSP00000503806.1:n.*546A>G | |
| ENST00000678785.1:c.326A>G | ENSP00000504231.1:p.Asn109Ser | |
| ENST00000678833.1:c.428-772A>G | ENSP00000503893.1:n.428-772A>G | |
| ENST00000679023.1:c.326A>G | ENSP00000503718.1:p.Asn109Ser | |
| ENST00000679076.1:c.199A>G | ||
| ENST00000679111.1:c.488A>G | ENSP00000504257.1:p.Asn163Ser | |
| ENST00000679189.1:c.137A>G | ENSP00000503356.1:p.Asn46Ser | |
| ENST00000341012.11:c.326A>G | ENSP00000343034.7:p.Asn109Ser | |
| ENST00000372228.7:c.488A>G | ENSP00000361302.3:p.Asn163Ser | |
| ENST00000402686.7:c.488A>G | ENSP00000385797.3:p.Asn163Ser | |
| ENST00000404875.6:c.137A>G | ENSP00000384531.2:p.Asn46Ser | |
| ENST00000415075.5:c.137A>G | ENSP00000405149.1:p.Asn46Ser | |
| ENST00000423007.5:c.488A>G | ENSP00000404119.1:p.Asn163Ser | |
| ENST00000430619.1:c.137A>G | ENSP00000402083.1:p.Asn46Ser | |
| ENST00000441334.5:c.137A>G | ENSP00000395060.1:p.Asn46Ser | |
| ENST00000448212.5:c.326A>G | ENSP00000403736.1:p.Asn109Ser | |
| ENST00000462375.5:n.46A>G | ||
| NM_001077365.1:c.488A>G | NP_001070833.1:p.Asn163Ser | |
| NM_001077366.1:c.326A>G | NP_001070834.1:p.Asn109Ser | |
| NM_001136113.1:c.488A>G | NP_001129585.1:p.Asn163Ser | |
| NM_001136114.1:c.137A>G | NP_001129586.1:p.Asn46Ser | |
| NM_007171.3:c.488A>G | NP_009102.3:p.Asn163Ser | |
| XM_005272156.1:c.488A>G | XP_005272213.1:p.Asn163Ser | |
| XM_005272158.1:c.326A>G | XP_005272215.1:p.Asn109Ser | |
| XM_005272159.1:c.137A>G | XP_005272216.1:p.Asn46Ser | |
| XM_005272162.1:c.-912A>G | XP_005272219.1:n.-912A>G | |
| XM_006716932.1:c.137A>G | XP_006716995.1:p.Asn46Ser | |
| XM_011518140.1:c.341A>G | XP_011516442.1:p.Asn114Ser | |
| XM_011518141.1:c.341A>G | XP_011516443.1:p.Asn114Ser | |
| XM_011518142.1:c.179A>G | XP_011516444.1:p.Asn60Ser | |
| XM_011518143.1:c.234A>G | XP_011516445.1:p.Gln78= | |
| XM_011518144.1:c.488A>G | XP_011516446.1:p.Asn163Ser | |
| XM_011518145.1:c.32A>G | XP_011516447.1:p.Asn11Ser | |
| XM_011518146.1:c.234A>G | XP_011516448.1:p.Gln78= | |
| XR_929703.1:n.664A>G | ||
| NM_001353193.1:c.488A>G | NP_001340122.1:p.Asn163Ser | |
| NM_001353194.1:c.326A>G | NP_001340123.1:p.Asn109Ser | |
| NM_001353195.1:c.137A>G | NP_001340124.1:p.Asn46Ser | |
| NM_001353196.1:c.398A>G | NP_001340125.1:p.Asn133Ser | |
| NM_001353197.1:c.326A>G | NP_001340126.1:p.Asn109Ser | |
| NM_001353198.1:c.326A>G | NP_001340127.1:p.Asn109Ser | |
| NM_001353199.1:c.137A>G | NP_001340128.1:p.Asn46Ser | |
| NM_001353200.1:c.32A>G | NP_001340129.1:p.Asn11Ser | |
| NR_148391.1:n.538A>G | ||
| NR_148392.1:n.690A>G | ||
| NR_148393.1:n.538A>G | ||
| NR_148394.1:n.478-772A>G | ||
| NR_148395.1:n.690A>G | ||
| NR_148396.1:n.371-772A>G | ||
| NR_148397.1:n.583A>G | ||
| NR_148398.1:n.538A>G | ||
| NR_148399.1:n.930A>G | ||
| NR_148400.1:n.524A>G | ||
| XM_005272162.3:c.-912A>G | XP_005272219.1:n.-912A>G | |
| XM_006716932.2:c.137A>G | XP_006716995.1:p.Asn46Ser | |
| XM_011518140.2:c.341A>G | XP_011516442.1:p.Asn114Ser | |
| XM_011518141.2:c.341A>G | XP_011516443.1:p.Asn114Ser | |
| XM_011518142.2:c.179A>G | XP_011516444.1:p.Asn60Ser | |
| XM_011518143.2:c.234A>G | XP_011516445.1:p.Gln78= | |
| XM_011518145.2:c.32A>G | XP_011516447.1:p.Asn11Ser | |
| XM_017014205.2:c.-715A>G | XP_016869694.1:n.-715A>G | |
| XM_024447380.1:c.-649A>G | XP_024303148.1:n.-649A>G | |
| XM_024447381.1:c.-601A>G | XP_024303149.1:n.-601A>G | |
| XM_024447382.1:c.-912A>G | XP_024303150.1:n.-912A>G | |
| XR_001746160.2:n.658A>G | ||
| XR_001746162.2:n.658A>G | ||
| XR_001746164.1:n.436A>G | ||
| XR_001746166.2:n.612A>G | ||
| NM_001077365.2:c.488A>G MANE Select | NP_001070833.1:p.Asn163Ser | |
| NM_001077366.2:c.326A>G | NP_001070834.1:p.Asn109Ser | |
| NM_001136113.2:c.488A>G | NP_001129585.1:p.Asn163Ser | |
| NM_001136114.2:c.137A>G | NP_001129586.1:p.Asn46Ser | |
| NM_001353193.2:c.488A>G | NP_001340122.2:p.Asn163Ser | |
| NM_001353194.2:c.326A>G | NP_001340123.1:p.Asn109Ser | |
| NM_001353195.2:c.137A>G | NP_001340124.1:p.Asn46Ser | |
| NM_001353196.2:c.398A>G | NP_001340125.1:p.Asn133Ser | |
| NM_001353197.2:c.326A>G | NP_001340126.2:p.Asn109Ser | |
| NM_001353198.2:c.326A>G | NP_001340127.2:p.Asn109Ser | |
| NM_001353199.2:c.137A>G | NP_001340128.2:p.Asn46Ser | |
| NM_001353200.2:c.32A>G | NP_001340129.1:p.Asn11Ser | |
| NM_001374689.1:c.326A>G | NP_001361618.1:p.Asn109Ser | |
| NM_001374690.1:c.488A>G | NP_001361619.1:p.Asn163Ser | |
| NM_001374691.1:c.137A>G | NP_001361620.1:p.Asn46Ser | |
| NM_001374692.1:c.137A>G | NP_001361621.1:p.Asn46Ser | |
| NM_001374693.1:c.326A>G | NP_001361622.1:p.Asn109Ser | |
| NM_001374695.1:c.32A>G | NP_001361624.1:p.Asn11Ser | |
| NM_007171.4:c.488A>G | NP_009102.4:p.Asn163Ser | |
| NR_148391.2:n.522A>G | ||
| NR_148392.2:n.674A>G | ||
| NR_148393.2:n.522A>G | ||
| NR_148394.2:n.462-772A>G | ||
| NR_148395.2:n.674A>G | ||
| NR_148396.2:n.355-772A>G | ||
| NR_148397.2:n.567A>G | ||
| NR_148398.2:n.522A>G | ||
| NR_148399.2:n.914A>G | ||
| NR_148400.2:n.508A>G |