Linked Data
ClinVar Variation Id:
285767
dbSNP Id:
rs886043203
gnomAD v3:
9-131512068-C-T
gnomAD v4:
9-131512068-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131512068C>T , CM000671.2:g.131512068C>T | GRCh38 |
| NC_000009.11:g.134387455C>T , CM000671.1:g.134387455C>T | GRCh37 |
| NC_000009.10:g.133377276C>T | NCBI36 |
| NG_008896.1:g.14167C>T | |
| NG_008896.2:g.14167C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.852C>T | ENSP00000343034.7:p.His284= | |
| ENST00000404875.7:n.1554C>T | ||
| ENST00000423007.6:c.1071C>T | ENSP00000404119.2:p.His357= | |
| ENST00000677295.2:c.*1358C>T | ENSP00000504346.2:n.*1358C>T | |
| ENST00000678264.2:c.*1197C>T | ENSP00000503157.2:n.*1197C>T | |
| ENST00000678942.2:c.*567C>T | ENSP00000504690.2:n.*567C>T | |
| ENST00000682070.1:n.1479C>T | ||
| ENST00000682813.1:n.1279C>T | ||
| ENST00000683392.1:n.3761C>T | ||
| ENST00000683712.1:n.1419C>T | ||
| ENST00000683900.1:n.2914C>T | ||
| ENST00000684062.1:n.1680C>T | ||
| ENST00000684579.1:n.2860C>T | ||
| ENST00000341012.12:c.852C>T | ENSP00000343034.7:p.His284= | |
| ENST00000372220.5:c.-118C>T | ENSP00000361294.5:n.-118C>T | |
| ENST00000372228.9:c.1080C>T | ENSP00000361302.3:p.His360= | |
| ENST00000402686.8:c.1014C>T MANE Select | ENSP00000385797.4:p.His338= | |
| ENST00000415075.6:c.*472C>T | ENSP00000405149.2:n.*472C>T | |
| ENST00000676640.1:c.1014C>T | ENSP00000503281.1:p.His338= | |
| ENST00000676803.1:c.189C>T | ENSP00000503093.1:p.His63= | |
| ENST00000676835.1:c.*229C>T | ENSP00000502911.1:n.*229C>T | |
| ENST00000677029.1:c.558C>T | ENSP00000502936.1:p.His186= | |
| ENST00000677099.1:c.*724C>T | ENSP00000504553.1:n.*724C>T | |
| ENST00000677216.1:c.663C>T | ENSP00000503772.1:p.His221= | |
| ENST00000677293.1:c.189C>T | ENSP00000504278.1:p.His63= | |
| ENST00000677295.1:c.*391C>T | ENSP00000504346.1:n.*391C>T | |
| ENST00000677444.1:c.820C>T | ||
| ENST00000677586.1:n.495C>T | ||
| ENST00000677626.1:c.824+601C>T | ENSP00000503552.1:n.824+601C>T | |
| ENST00000677677.1:n.974C>T | ||
| ENST00000677853.1:c.*22C>T | ENSP00000503488.1:n.*22C>T | |
| ENST00000677944.1:c.276C>T | ||
| ENST00000678264.1:c.*391C>T | ENSP00000503157.1:n.*391C>T | |
| ENST00000678303.1:c.924C>T | ENSP00000503696.1:p.His308= | |
| ENST00000678366.1:c.*1263C>T | ENSP00000504353.1:n.*1263C>T | |
| ENST00000678546.1:c.*959C>T | ENSP00000503062.1:n.*959C>T | |
| ENST00000678548.1:c.*1086C>T | ENSP00000503934.1:n.*1086C>T | |
| ENST00000678626.1:n.711C>T | ||
| ENST00000678733.1:c.188C>T | ||
| ENST00000678739.1:c.*1340C>T | ENSP00000503806.1:n.*1340C>T | |
| ENST00000678795.1:n.101C>T | ||
| ENST00000678833.1:c.*461C>T | ENSP00000503893.1:n.*461C>T | |
| ENST00000678942.1:c.194C>T | ENSP00000504690.1:n.194C>T | |
| ENST00000679023.1:c.852C>T | ENSP00000503718.1:p.His284= | |
| ENST00000679073.1:c.392C>T | ENSP00000504356.1:n.392C>T | |
| ENST00000679076.1:c.633C>T | ||
| ENST00000679111.1:c.1014C>T | ENSP00000504257.1:p.His338= | |
| ENST00000679189.1:c.663C>T | ENSP00000503356.1:p.His221= | |
| ENST00000341012.11:c.852C>T | ENSP00000343034.7:p.His284= | |
| ENST00000372228.7:c.1080C>T | ENSP00000361302.3:p.His360= | |
| ENST00000402686.7:c.1014C>T | ENSP00000385797.3:p.His338= | |
| ENST00000404875.6:c.663C>T | ENSP00000384531.2:p.His221= | |
| ENST00000415075.5:c.411C>T | ENSP00000405149.1:p.His137= | |
| ENST00000423007.5:c.1014C>T | ENSP00000404119.1:p.His338= | |
| ENST00000441334.5:c.729C>T | ENSP00000395060.1:p.His243= | |
| ENST00000462375.5:n.840C>T | ||
| ENST00000485278.5:n.1569C>T | ||
| NM_001077365.1:c.1014C>T | NP_001070833.1:p.His338= | |
| NM_001077366.1:c.852C>T | NP_001070834.1:p.His284= | |
| NM_001136113.1:c.1014C>T | NP_001129585.1:p.His338= | |
| NM_001136114.1:c.663C>T | NP_001129586.1:p.His221= | |
| NM_007171.3:c.1080C>T | NP_009102.3:p.His360= | |
| XM_005272156.1:c.1080C>T | XP_005272213.1:p.His360= | |
| XM_005272158.1:c.918C>T | XP_005272215.1:p.His306= | |
| XM_005272159.1:c.729C>T | XP_005272216.1:p.His243= | |
| XM_005272162.1:c.-118C>T | XP_005272219.1:n.-118C>T | |
| XM_006716932.1:c.729C>T | XP_006716995.1:p.His243= | |
| XM_011518140.1:c.933C>T | XP_011516442.1:p.His311= | |
| XM_011518141.1:c.867C>T | XP_011516443.1:p.His289= | |
| XM_011518142.1:c.771C>T | XP_011516444.1:p.His257= | |
| XM_011518143.1:c.765C>T | XP_011516445.1:p.His255= | |
| XM_011518144.1:c.1080C>T | XP_011516446.1:p.His360= | |
| XM_011518145.1:c.624C>T | XP_011516447.1:p.His208= | |
| XM_011518146.1:c.765C>T | XP_011516448.1:p.His255= | |
| XR_929703.1:n.1256C>T | ||
| NM_001353193.1:c.1080C>T | NP_001340122.1:p.His360= | |
| NM_001353194.1:c.852C>T | NP_001340123.1:p.His284= | |
| NM_001353195.1:c.663C>T | NP_001340124.1:p.His221= | |
| NM_001353196.1:c.924C>T | NP_001340125.1:p.His308= | |
| NM_001353197.1:c.918C>T | NP_001340126.1:p.His306= | |
| NM_001353198.1:c.918C>T | NP_001340127.1:p.His306= | |
| NM_001353199.1:c.729C>T | NP_001340128.1:p.His243= | |
| NM_001353200.1:c.558C>T | NP_001340129.1:p.His186= | |
| NR_148391.1:n.1064C>T | ||
| NR_148392.1:n.1282C>T | ||
| NR_148393.1:n.1064C>T | ||
| NR_148394.1:n.957C>T | ||
| NR_148395.1:n.1216C>T | ||
| NR_148396.1:n.850C>T | ||
| NR_148397.1:n.1114C>T | ||
| NR_148398.1:n.1069C>T | ||
| NR_148399.1:n.1456C>T | ||
| NR_148400.1:n.1055C>T | ||
| XM_005272162.3:c.-118C>T | XP_005272219.1:n.-118C>T | |
| XM_006716932.2:c.729C>T | XP_006716995.1:p.His243= | |
| XM_011518140.2:c.933C>T | XP_011516442.1:p.His311= | |
| XM_011518141.2:c.867C>T | XP_011516443.1:p.His289= | |
| XM_011518142.2:c.771C>T | XP_011516444.1:p.His257= | |
| XM_011518143.2:c.765C>T | XP_011516445.1:p.His255= | |
| XM_011518145.2:c.624C>T | XP_011516447.1:p.His208= | |
| XM_017014205.2:c.-118C>T | XP_016869694.1:n.-118C>T | |
| XM_024447380.1:c.-118C>T | XP_024303148.1:n.-118C>T | |
| XM_024447381.1:c.189C>T | XP_024303149.1:p.His63= | |
| XM_024447382.1:c.-118C>T | XP_024303150.1:n.-118C>T | |
| XR_001746160.2:n.1184C>T | ||
| XR_001746162.2:n.1250C>T | ||
| XR_001746164.1:n.967C>T | ||
| XR_001746166.2:n.1401C>T | ||
| NM_001077365.2:c.1014C>T MANE Select | NP_001070833.1:p.His338= | |
| NM_001077366.2:c.852C>T | NP_001070834.1:p.His284= | |
| NM_001136113.2:c.1014C>T | NP_001129585.1:p.His338= | |
| NM_001136114.2:c.663C>T | NP_001129586.1:p.His221= | |
| NM_001353193.2:c.1080C>T | NP_001340122.2:p.His360= | |
| NM_001353194.2:c.852C>T | NP_001340123.1:p.His284= | |
| NM_001353195.2:c.663C>T | NP_001340124.1:p.His221= | |
| NM_001353196.2:c.924C>T | NP_001340125.1:p.His308= | |
| NM_001353197.2:c.918C>T | NP_001340126.2:p.His306= | |
| NM_001353198.2:c.918C>T | NP_001340127.2:p.His306= | |
| NM_001353199.2:c.729C>T | NP_001340128.2:p.His243= | |
| NM_001353200.2:c.558C>T | NP_001340129.1:p.His186= | |
| NM_001374689.1:c.1002C>T | NP_001361618.1:p.His334= | |
| NM_001374690.1:c.1014C>T | NP_001361619.1:p.His338= | |
| NM_001374691.1:c.663C>T | NP_001361620.1:p.His221= | |
| NM_001374692.1:c.663C>T | NP_001361621.1:p.His221= | |
| NM_001374693.1:c.824+601C>T | NP_001361622.1:n.824+601C>T | |
| NM_001374695.1:c.624C>T | NP_001361624.1:p.His208= | |
| NM_007171.4:c.1080C>T | NP_009102.4:p.His360= | |
| NR_148391.2:n.1048C>T | ||
| NR_148392.2:n.1266C>T | ||
| NR_148393.2:n.1048C>T | ||
| NR_148394.2:n.941C>T | ||
| NR_148395.2:n.1200C>T | ||
| NR_148396.2:n.834C>T | ||
| NR_148397.2:n.1098C>T | ||
| NR_148398.2:n.1053C>T | ||
| NR_148399.2:n.1440C>T | ||
| NR_148400.2:n.1039C>T |