Linked Data
ClinVar Variation Id:
3239
dbSNP Id:
rs119462981
gnomAD v2:
9-134385788-C-T
gnomAD v3:
9-131510401-C-T
gnomAD v4:
9-131510401-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131510401C>T , CM000671.2:g.131510401C>T | GRCh38 |
| NC_000009.11:g.134385788C>T , CM000671.1:g.134385788C>T | GRCh37 |
| NC_000009.10:g.133375609C>T | NCBI36 |
| NG_008896.1:g.12500C>T | |
| NG_008896.2:g.12500C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.679C>T | ENSP00000343034.7:p.Gln227Ter | |
| ENST00000404875.7:n.1213C>T | ||
| ENST00000423007.6:c.898C>T | ENSP00000404119.2:p.Gln300Ter | |
| ENST00000677295.2:c.*1180C>T | ENSP00000504346.2:n.*1180C>T | |
| ENST00000678264.2:c.*1024C>T | ENSP00000503157.2:n.*1024C>T | |
| ENST00000678942.2:c.*394C>T | ENSP00000504690.2:n.*394C>T | |
| ENST00000682070.1:n.1301C>T | ||
| ENST00000682813.1:n.1106C>T | ||
| ENST00000683134.1:c.208C>T | ||
| ENST00000683392.1:n.3588C>T | ||
| ENST00000683712.1:n.1241C>T | ||
| ENST00000683855.1:n.381C>T | ||
| ENST00000683900.1:n.2168C>T | ||
| ENST00000684062.1:n.1507C>T | ||
| ENST00000684579.1:n.2682C>T | ||
| ENST00000341012.12:c.679C>T | ENSP00000343034.7:p.Gln227Ter | |
| ENST00000372220.5:c.-145-1640C>T | ENSP00000361294.5:n.-145-1640C>T | |
| ENST00000372228.9:c.907C>T | ENSP00000361302.3:p.Gln303Ter | |
| ENST00000402686.8:c.841C>T MANE Select | ENSP00000385797.4:p.Gln281Ter | |
| ENST00000415075.6:c.*294C>T | ENSP00000405149.2:n.*294C>T | |
| ENST00000676640.1:c.841C>T | ENSP00000503281.1:p.Gln281Ter | |
| ENST00000676803.1:c.16C>T | ENSP00000503093.1:p.Gln6Ter | |
| ENST00000676835.1:c.*51C>T | ENSP00000502911.1:n.*51C>T | |
| ENST00000677029.1:c.385C>T | ENSP00000502936.1:p.Gln129Ter | |
| ENST00000677099.1:c.*551C>T | ENSP00000504553.1:n.*551C>T | |
| ENST00000677216.1:c.490C>T | ENSP00000503772.1:p.Gln164Ter | |
| ENST00000677293.1:c.16C>T | ENSP00000504278.1:p.Gln6Ter | |
| ENST00000677295.1:c.*213C>T | ENSP00000504346.1:n.*213C>T | |
| ENST00000677444.1:c.647C>T | ||
| ENST00000677586.1:n.322C>T | ||
| ENST00000677626.1:c.679C>T | ENSP00000503552.1:p.Gln227Ter | |
| ENST00000677677.1:n.801C>T | ||
| ENST00000677853.1:c.422C>T | ENSP00000503488.1:p.Pro141Leu | |
| ENST00000677944.1:c.103C>T | ||
| ENST00000678264.1:c.*213C>T | ENSP00000503157.1:n.*213C>T | |
| ENST00000678303.1:c.751C>T | ENSP00000503696.1:p.Gln251Ter | |
| ENST00000678366.1:c.*1090C>T | ENSP00000504353.1:n.*1090C>T | |
| ENST00000678546.1:c.*213C>T | ENSP00000503062.1:n.*213C>T | |
| ENST00000678548.1:c.*908C>T | ENSP00000503934.1:n.*908C>T | |
| ENST00000678626.1:n.533C>T | ||
| ENST00000678707.1:n.479C>T | ||
| ENST00000678733.1:c.15C>T | ||
| ENST00000678739.1:c.*1162C>T | ENSP00000503806.1:n.*1162C>T | |
| ENST00000678833.1:c.*288C>T | ENSP00000503893.1:n.*288C>T | |
| ENST00000678942.1:c.16C>T | ENSP00000504690.1:p.Gln6Ter | |
| ENST00000679023.1:c.679C>T | ENSP00000503718.1:p.Gln227Ter | |
| ENST00000679073.1:c.219C>T | ENSP00000504356.1:n.219C>T | |
| ENST00000679076.1:c.455C>T | ||
| ENST00000679111.1:c.841C>T | ENSP00000504257.1:p.Gln281Ter | |
| ENST00000679189.1:c.490C>T | ENSP00000503356.1:p.Gln164Ter | |
| ENST00000341012.11:c.679C>T | ENSP00000343034.7:p.Gln227Ter | |
| ENST00000372228.7:c.907C>T | ENSP00000361302.3:p.Gln303Ter | |
| ENST00000402686.7:c.841C>T | ENSP00000385797.3:p.Gln281Ter | |
| ENST00000404875.6:c.490C>T | ENSP00000384531.2:p.Gln164Ter | |
| ENST00000415075.5:c.233C>T | ENSP00000405149.1:p.Pro78Leu | |
| ENST00000423007.5:c.841C>T | ENSP00000404119.1:p.Gln281Ter | |
| ENST00000430619.1:c.490C>T | ENSP00000402083.1:p.Gln164Ter | |
| ENST00000441334.5:c.556C>T | ENSP00000395060.1:p.Gln186Ter | |
| ENST00000462375.5:n.662C>T | ||
| NM_001077365.1:c.841C>T | NP_001070833.1:p.Gln281Ter | |
| NM_001077366.1:c.679C>T | NP_001070834.1:p.Gln227Ter | |
| NM_001136113.1:c.841C>T | NP_001129585.1:p.Gln281Ter | |
| NM_001136114.1:c.490C>T | NP_001129586.1:p.Gln164Ter | |
| NM_007171.3:c.907C>T | NP_009102.3:p.Gln303Ter | |
| XM_005272156.1:c.907C>T | XP_005272213.1:p.Gln303Ter | |
| XM_005272158.1:c.745C>T | XP_005272215.1:p.Gln249Ter | |
| XM_005272159.1:c.556C>T | XP_005272216.1:p.Gln186Ter | |
| XM_005272162.1:c.-296C>T | XP_005272219.1:n.-296C>T | |
| XM_006716932.1:c.556C>T | XP_006716995.1:p.Gln186Ter | |
| XM_011518140.1:c.760C>T | XP_011516442.1:p.Gln254Ter | |
| XM_011518141.1:c.694C>T | XP_011516443.1:p.Gln232Ter | |
| XM_011518142.1:c.598C>T | XP_011516444.1:p.Gln200Ter | |
| XM_011518143.1:c.587C>T | XP_011516445.1:p.Pro196Leu | |
| XM_011518144.1:c.907C>T | XP_011516446.1:p.Gln303Ter | |
| XM_011518145.1:c.451C>T | XP_011516447.1:p.Gln151Ter | |
| XM_011518146.1:c.587C>T | XP_011516448.1:p.Pro196Leu | |
| XR_929703.1:n.1083C>T | ||
| NM_001353193.1:c.907C>T | NP_001340122.1:p.Gln303Ter | |
| NM_001353194.1:c.679C>T | NP_001340123.1:p.Gln227Ter | |
| NM_001353195.1:c.490C>T | NP_001340124.1:p.Gln164Ter | |
| NM_001353196.1:c.751C>T | NP_001340125.1:p.Gln251Ter | |
| NM_001353197.1:c.745C>T | NP_001340126.1:p.Gln249Ter | |
| NM_001353198.1:c.745C>T | NP_001340127.1:p.Gln249Ter | |
| NM_001353199.1:c.556C>T | NP_001340128.1:p.Gln186Ter | |
| NM_001353200.1:c.385C>T | NP_001340129.1:p.Gln129Ter | |
| NR_148391.1:n.891C>T | ||
| NR_148392.1:n.1109C>T | ||
| NR_148393.1:n.891C>T | ||
| NR_148394.1:n.779C>T | ||
| NR_148395.1:n.1043C>T | ||
| NR_148396.1:n.672C>T | ||
| NR_148397.1:n.936C>T | ||
| NR_148398.1:n.891C>T | ||
| NR_148399.1:n.1283C>T | ||
| NR_148400.1:n.877C>T | ||
| XM_005272162.3:c.-296C>T | XP_005272219.1:n.-296C>T | |
| XM_006716932.2:c.556C>T | XP_006716995.1:p.Gln186Ter | |
| XM_011518140.2:c.760C>T | XP_011516442.1:p.Gln254Ter | |
| XM_011518141.2:c.694C>T | XP_011516443.1:p.Gln232Ter | |
| XM_011518142.2:c.598C>T | XP_011516444.1:p.Gln200Ter | |
| XM_011518143.2:c.587C>T | XP_011516445.1:p.Pro196Leu | |
| XM_011518145.2:c.451C>T | XP_011516447.1:p.Gln151Ter | |
| XM_017014205.2:c.-296C>T | XP_016869694.1:n.-296C>T | |
| XM_024447380.1:c.-296C>T | XP_024303148.1:n.-296C>T | |
| XM_024447381.1:c.16C>T | XP_024303149.1:p.Gln6Ter | |
| XM_024447382.1:c.-296C>T | XP_024303150.1:n.-296C>T | |
| XR_001746160.2:n.1011C>T | ||
| XR_001746162.2:n.1077C>T | ||
| XR_001746164.1:n.789C>T | ||
| XR_001746166.2:n.1228C>T | ||
| NM_001077365.2:c.841C>T MANE Select | NP_001070833.1:p.Gln281Ter | |
| NM_001077366.2:c.679C>T | NP_001070834.1:p.Gln227Ter | |
| NM_001136113.2:c.841C>T | NP_001129585.1:p.Gln281Ter | |
| NM_001136114.2:c.490C>T | NP_001129586.1:p.Gln164Ter | |
| NM_001353193.2:c.907C>T | NP_001340122.2:p.Gln303Ter | |
| NM_001353194.2:c.679C>T | NP_001340123.1:p.Gln227Ter | |
| NM_001353195.2:c.490C>T | NP_001340124.1:p.Gln164Ter | |
| NM_001353196.2:c.751C>T | NP_001340125.1:p.Gln251Ter | |
| NM_001353197.2:c.745C>T | NP_001340126.2:p.Gln249Ter | |
| NM_001353198.2:c.745C>T | NP_001340127.2:p.Gln249Ter | |
| NM_001353199.2:c.556C>T | NP_001340128.2:p.Gln186Ter | |
| NM_001353200.2:c.385C>T | NP_001340129.1:p.Gln129Ter | |
| NM_001374689.1:c.824C>T | NP_001361618.1:p.Pro275Leu | |
| NM_001374690.1:c.841C>T | NP_001361619.1:p.Gln281Ter | |
| NM_001374691.1:c.490C>T | NP_001361620.1:p.Gln164Ter | |
| NM_001374692.1:c.490C>T | NP_001361621.1:p.Gln164Ter | |
| NM_001374693.1:c.679C>T | NP_001361622.1:p.Gln227Ter | |
| NM_001374695.1:c.451C>T | NP_001361624.1:p.Gln151Ter | |
| NM_007171.4:c.907C>T | NP_009102.4:p.Gln303Ter | |
| NR_148391.2:n.875C>T | ||
| NR_148392.2:n.1093C>T | ||
| NR_148393.2:n.875C>T | ||
| NR_148394.2:n.763C>T | ||
| NR_148395.2:n.1027C>T | ||
| NR_148396.2:n.656C>T | ||
| NR_148397.2:n.920C>T | ||
| NR_148398.2:n.875C>T | ||
| NR_148399.2:n.1267C>T | ||
| NR_148400.2:n.861C>T |