Linked Data
dbSNP Id:
rs1237924155
gnomAD v2:
9-134394161-C-T
gnomAD v3:
9-131518774-C-T
gnomAD v4:
9-131518774-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131518774C>T , CM000671.2:g.131518774C>T | GRCh38 |
| NC_000009.11:g.134394161C>T , CM000671.1:g.134394161C>T | GRCh37 |
| NC_000009.10:g.133383982C>T | NCBI36 |
| NG_008896.1:g.20873C>T | |
| NG_008896.2:g.20873C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1204-63C>T | ENSP00000343034.7:n.1204-63C>T | |
| ENST00000404875.7:n.1906-63C>T | ||
| ENST00000423007.6:c.1423-63C>T | ENSP00000404119.2:n.1423-63C>T | |
| ENST00000677295.2:c.*1710-63C>T | ENSP00000504346.2:n.*1710-63C>T | |
| ENST00000678264.2:c.*1549-63C>T | ENSP00000503157.2:n.*1549-63C>T | |
| ENST00000682070.1:n.1831-63C>T | ||
| ENST00000682539.1:c.304-63C>T | ||
| ENST00000682813.1:n.1707C>T | ||
| ENST00000683392.1:n.4113-63C>T | ||
| ENST00000683712.1:n.1771-63C>T | ||
| ENST00000683900.1:n.3266-63C>T | ||
| ENST00000684062.1:n.2032-63C>T | ||
| ENST00000684579.1:n.3212-63C>T | ||
| ENST00000684679.1:n.593-63C>T | ||
| ENST00000341012.12:c.1204-63C>T | ENSP00000343034.7:n.1204-63C>T | |
| ENST00000372220.5:c.235-63C>T | ENSP00000361294.5:n.235-63C>T | |
| ENST00000372228.9:c.1432-63C>T | ENSP00000361302.3:n.1432-63C>T | |
| ENST00000402686.8:c.1366-63C>T MANE Select | ENSP00000385797.4:n.1366-63C>T | |
| ENST00000676640.1:c.1366-63C>T | ENSP00000503281.1:n.1366-63C>T | |
| ENST00000676803.1:c.541-63C>T | ENSP00000503093.1:n.541-63C>T | |
| ENST00000676835.1:c.*581-63C>T | ENSP00000502911.1:n.*581-63C>T | |
| ENST00000677029.1:c.910-63C>T | ENSP00000502936.1:n.910-63C>T | |
| ENST00000677099.1:c.*1076-63C>T | ENSP00000504553.1:n.*1076-63C>T | |
| ENST00000677216.1:c.1015-63C>T | ENSP00000503772.1:n.1015-63C>T | |
| ENST00000677221.1:n.391-63C>T | ||
| ENST00000677295.1:c.*743-63C>T | ENSP00000504346.1:n.*743-63C>T | |
| ENST00000677444.1:c.1248C>T | ||
| ENST00000677586.1:n.847-63C>T | ||
| ENST00000677626.1:c.1015-63C>T | ENSP00000503552.1:n.1015-63C>T | |
| ENST00000677677.1:n.1326-63C>T | ||
| ENST00000677853.1:c.*374-63C>T | ENSP00000503488.1:n.*374-63C>T | |
| ENST00000677983.1:n.531C>T | ||
| ENST00000678202.1:n.462C>T | ||
| ENST00000678264.1:c.*743-63C>T | ENSP00000503157.1:n.*743-63C>T | |
| ENST00000678303.1:c.1276-63C>T | ENSP00000503696.1:n.1276-63C>T | |
| ENST00000678366.1:c.*1615-63C>T | ENSP00000504353.1:n.*1615-63C>T | |
| ENST00000678546.1:c.*1311-63C>T | ENSP00000503062.1:n.*1311-63C>T | |
| ENST00000678548.1:c.*1438-63C>T | ENSP00000503934.1:n.*1438-63C>T | |
| ENST00000678626.1:n.1139C>T | ||
| ENST00000678733.1:c.447-63C>T | ||
| ENST00000678739.1:c.*1692-63C>T | ENSP00000503806.1:n.*1692-63C>T | |
| ENST00000678795.1:n.529C>T | ||
| ENST00000678833.1:c.*813-63C>T | ENSP00000503893.1:n.*813-63C>T | |
| ENST00000679023.1:c.1204-63C>T | ENSP00000503718.1:n.1204-63C>T | |
| ENST00000679076.1:c.985-63C>T | ||
| ENST00000679111.1:c.*59C>T | ENSP00000504257.1:n.*59C>T | |
| ENST00000679189.1:c.1015-63C>T | ENSP00000503356.1:n.1015-63C>T | |
| ENST00000341012.11:c.1204-63C>T | ENSP00000343034.7:n.1204-63C>T | |
| ENST00000372220.4:c.229-63C>T | ENSP00000361294.4:n.229-63C>T | |
| ENST00000372228.7:c.1432-63C>T | ENSP00000361302.3:n.1432-63C>T | |
| ENST00000402686.7:c.1366-63C>T | ENSP00000385797.3:n.1366-63C>T | |
| ENST00000404875.6:c.1015-63C>T | ENSP00000384531.2:n.1015-63C>T | |
| ENST00000423007.5:c.1366-63C>T | ENSP00000404119.1:n.1366-63C>T | |
| ENST00000467848.1:n.7C>T | ||
| ENST00000485278.5:n.1921-63C>T | ||
| NM_001077365.1:c.1366-63C>T | NP_001070833.1:n.1366-63C>T | |
| NM_001077366.1:c.1204-63C>T | NP_001070834.1:n.1204-63C>T | |
| NM_001136113.1:c.1366-63C>T | NP_001129585.1:n.1366-63C>T | |
| NM_001136114.1:c.1015-63C>T | NP_001129586.1:n.1015-63C>T | |
| NM_007171.3:c.1432-63C>T | NP_009102.3:n.1432-63C>T | |
| XM_005272156.1:c.1432-63C>T | XP_005272213.1:n.1432-63C>T | |
| XM_005272158.1:c.1270-63C>T | XP_005272215.1:n.1270-63C>T | |
| XM_005272159.1:c.1081-63C>T | XP_005272216.1:n.1081-63C>T | |
| XM_005272162.1:c.235-63C>T | XP_005272219.1:n.235-63C>T | |
| XM_006716932.1:c.1081-63C>T | XP_006716995.1:n.1081-63C>T | |
| XM_011518140.1:c.1285-63C>T | XP_011516442.1:n.1285-63C>T | |
| XM_011518141.1:c.1219-63C>T | XP_011516443.1:n.1219-63C>T | |
| XM_011518142.1:c.1123-63C>T | XP_011516444.1:n.1123-63C>T | |
| XM_011518143.1:c.1117-63C>T | XP_011516445.1:n.1117-63C>T | |
| XM_011518144.1:c.*59C>T | XP_011516446.1:n.*59C>T | |
| XM_011518145.1:c.976-63C>T | XP_011516447.1:n.976-63C>T | |
| XM_011518146.1:c.*59C>T | XP_011516448.1:n.*59C>T | |
| XM_011518147.1:c.304-63C>T | XP_011516449.1:n.304-63C>T | |
| XR_929703.1:n.1608-63C>T | ||
| NM_001353193.1:c.1432-63C>T | NP_001340122.1:n.1432-63C>T | |
| NM_001353194.1:c.1204-63C>T | NP_001340123.1:n.1204-63C>T | |
| NM_001353195.1:c.1015-63C>T | NP_001340124.1:n.1015-63C>T | |
| NM_001353196.1:c.1276-63C>T | NP_001340125.1:n.1276-63C>T | |
| NM_001353197.1:c.1270-63C>T | NP_001340126.1:n.1270-63C>T | |
| NM_001353198.1:c.1270-63C>T | NP_001340127.1:n.1270-63C>T | |
| NM_001353199.1:c.1081-63C>T | NP_001340128.1:n.1081-63C>T | |
| NM_001353200.1:c.910-63C>T | NP_001340129.1:n.910-63C>T | |
| NR_148391.1:n.1416-63C>T | ||
| NR_148392.1:n.1634-63C>T | ||
| NR_148393.1:n.1492C>T | ||
| NR_148394.1:n.1309-63C>T | ||
| NR_148395.1:n.1644C>T | ||
| NR_148396.1:n.1278C>T | ||
| NR_148397.1:n.1466-63C>T | ||
| NR_148398.1:n.1421-63C>T | ||
| NR_148399.1:n.1884C>T | ||
| NR_148400.1:n.1483C>T | ||
| XM_005272162.3:c.235-63C>T | XP_005272219.1:n.235-63C>T | |
| XM_006716932.2:c.1081-63C>T | XP_006716995.1:n.1081-63C>T | |
| XM_011518140.2:c.1285-63C>T | XP_011516442.1:n.1285-63C>T | |
| XM_011518141.2:c.1219-63C>T | XP_011516443.1:n.1219-63C>T | |
| XM_011518142.2:c.1123-63C>T | XP_011516444.1:n.1123-63C>T | |
| XM_011518143.2:c.1117-63C>T | XP_011516445.1:n.1117-63C>T | |
| XM_011518145.2:c.976-63C>T | XP_011516447.1:n.976-63C>T | |
| XM_017014205.2:c.235-63C>T | XP_016869694.1:n.235-63C>T | |
| XM_024447380.1:c.235-63C>T | XP_024303148.1:n.235-63C>T | |
| XM_024447381.1:c.541-63C>T | XP_024303149.1:n.541-63C>T | |
| XM_024447382.1:c.235-63C>T | XP_024303150.1:n.235-63C>T | |
| XR_001746160.2:n.1536-63C>T | ||
| XR_001746162.2:n.1678C>T | ||
| XR_001746164.1:n.1395C>T | ||
| XR_001746166.2:n.1753-63C>T | ||
| NM_001077365.2:c.1366-63C>T MANE Select | NP_001070833.1:n.1366-63C>T | |
| NM_001077366.2:c.1204-63C>T | NP_001070834.1:n.1204-63C>T | |
| NM_001136113.2:c.1366-63C>T | NP_001129585.1:n.1366-63C>T | |
| NM_001136114.2:c.1015-63C>T | NP_001129586.1:n.1015-63C>T | |
| NM_001353193.2:c.1432-63C>T | NP_001340122.2:n.1432-63C>T | |
| NM_001353194.2:c.1204-63C>T | NP_001340123.1:n.1204-63C>T | |
| NM_001353195.2:c.1015-63C>T | NP_001340124.1:n.1015-63C>T | |
| NM_001353196.2:c.1276-63C>T | NP_001340125.1:n.1276-63C>T | |
| NM_001353197.2:c.1270-63C>T | NP_001340126.2:n.1270-63C>T | |
| NM_001353198.2:c.1270-63C>T | NP_001340127.2:n.1270-63C>T | |
| NM_001353199.2:c.1081-63C>T | NP_001340128.2:n.1081-63C>T | |
| NM_001353200.2:c.910-63C>T | NP_001340129.1:n.910-63C>T | |
| NM_001374689.1:c.1354-63C>T | NP_001361618.1:n.1354-63C>T | |
| NM_001374690.1:c.1365+237C>T | NP_001361619.1:n.1365+237C>T | |
| NM_001374691.1:c.1015-63C>T | NP_001361620.1:n.1015-63C>T | |
| NM_001374692.1:c.1015-63C>T | NP_001361621.1:n.1015-63C>T | |
| NM_001374693.1:c.1015-63C>T | NP_001361622.1:n.1015-63C>T | |
| NM_001374695.1:c.976-63C>T | NP_001361624.1:n.976-63C>T | |
| NM_007171.4:c.1432-63C>T | NP_009102.4:n.1432-63C>T | |
| NR_148391.2:n.1400-63C>T | ||
| NR_148392.2:n.1618-63C>T | ||
| NR_148393.2:n.1476C>T | ||
| NR_148394.2:n.1293-63C>T | ||
| NR_148395.2:n.1628C>T | ||
| NR_148396.2:n.1262C>T | ||
| NR_148397.2:n.1450-63C>T | ||
| NR_148398.2:n.1405-63C>T | ||
| NR_148399.2:n.1868C>T | ||
| NR_148400.2:n.1467C>T |