Linked Data
ClinVar Variation Id:
289344
dbSNP Id:
rs180847856
ExAC:
9:134395586 C / T
gnomAD v2:
9-134395586-C-T
gnomAD v3:
9-131520199-C-T
gnomAD v4:
9-131520199-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131520199C>T , CM000671.2:g.131520199C>T | GRCh38 |
| NC_000009.11:g.134395586C>T , CM000671.1:g.134395586C>T | GRCh37 |
| NC_000009.10:g.133385407C>T | NCBI36 |
| NG_008896.1:g.22298C>T | |
| NG_008896.2:g.22298C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1536+6C>T | ENSP00000343034.7:n.1536+6C>T | |
| ENST00000404875.7:n.2238+6C>T | ||
| ENST00000423007.6:c.1755+6C>T | ENSP00000404119.2:n.1755+6C>T | |
| ENST00000677295.2:c.*2042+6C>T | ENSP00000504346.2:n.*2042+6C>T | |
| ENST00000678264.2:c.*1881+6C>T | ENSP00000503157.2:n.*1881+6C>T | |
| ENST00000682070.1:n.2163+6C>T | ||
| ENST00000682813.1:n.2102+6C>T | ||
| ENST00000683392.1:n.4445+6C>T | ||
| ENST00000683712.1:n.2103+6C>T | ||
| ENST00000683900.1:n.3598+6C>T | ||
| ENST00000684062.1:n.2364+6C>T | ||
| ENST00000684579.1:n.3544+6C>T | ||
| ENST00000684679.1:n.925+6C>T | ||
| ENST00000341012.12:c.1536+6C>T | ENSP00000343034.7:n.1536+6C>T | |
| ENST00000372220.5:c.567+6C>T | ENSP00000361294.5:n.567+6C>T | |
| ENST00000372228.9:c.1764+6C>T | ENSP00000361302.3:n.1764+6C>T | |
| ENST00000402686.8:c.1698+6C>T MANE Select | ENSP00000385797.4:n.1698+6C>T | |
| ENST00000676640.1:c.1698+6C>T | ENSP00000503281.1:n.1698+6C>T | |
| ENST00000676803.1:c.759+713C>T | ENSP00000503093.1:n.759+713C>T | |
| ENST00000676835.1:c.*913+6C>T | ENSP00000502911.1:n.*913+6C>T | |
| ENST00000677029.1:c.1242+6C>T | ENSP00000502936.1:n.1242+6C>T | |
| ENST00000677099.1:c.*1408+6C>T | ENSP00000504553.1:n.*1408+6C>T | |
| ENST00000677216.1:c.1347+6C>T | ENSP00000503772.1:n.1347+6C>T | |
| ENST00000677221.1:n.723+6C>T | ||
| ENST00000677295.1:c.*1075+6C>T | ENSP00000504346.1:n.*1075+6C>T | |
| ENST00000677444.1:c.1643+6C>T | ||
| ENST00000677586.1:n.1065+713C>T | ||
| ENST00000677626.1:c.1347+6C>T | ENSP00000503552.1:n.1347+6C>T | |
| ENST00000677677.1:n.1664C>T | ||
| ENST00000677853.1:c.*706+6C>T | ENSP00000503488.1:n.*706+6C>T | |
| ENST00000678202.1:n.857+6C>T | ||
| ENST00000678264.1:c.*1075+6C>T | ENSP00000503157.1:n.*1075+6C>T | |
| ENST00000678303.1:c.1608+6C>T | ENSP00000503696.1:n.1608+6C>T | |
| ENST00000678366.1:c.*1947+6C>T | ENSP00000504353.1:n.*1947+6C>T | |
| ENST00000678546.1:c.*1643+6C>T | ENSP00000503062.1:n.*1643+6C>T | |
| ENST00000678548.1:c.*1770+6C>T | ENSP00000503934.1:n.*1770+6C>T | |
| ENST00000678626.1:n.1534+6C>T | ||
| ENST00000678739.1:c.*2019+6C>T | ENSP00000503806.1:n.*2019+6C>T | |
| ENST00000678833.1:c.*1450+6C>T | ENSP00000503893.1:n.*1450+6C>T | |
| ENST00000679023.1:c.1536+6C>T | ENSP00000503718.1:n.1536+6C>T | |
| ENST00000679076.1:c.1317+6C>T | ||
| ENST00000679111.1:c.*454+6C>T | ENSP00000504257.1:n.*454+6C>T | |
| ENST00000679189.1:c.1347+6C>T | ENSP00000503356.1:n.1347+6C>T | |
| ENST00000341012.11:c.1536+6C>T | ENSP00000343034.7:n.1536+6C>T | |
| ENST00000372220.4:c.561+6C>T | ENSP00000361294.4:n.561+6C>T | |
| ENST00000372228.7:c.1764+6C>T | ENSP00000361302.3:n.1764+6C>T | |
| ENST00000402686.7:c.1698+6C>T | ENSP00000385797.3:n.1698+6C>T | |
| ENST00000404875.6:c.1347+6C>T | ENSP00000384531.2:n.1347+6C>T | |
| ENST00000423007.5:c.1698+6C>T | ENSP00000404119.1:n.1698+6C>T | |
| ENST00000467848.1:n.402+6C>T | ||
| ENST00000485278.5:n.2248+6C>T | ||
| NM_001077365.1:c.1698+6C>T | NP_001070833.1:n.1698+6C>T | |
| NM_001077366.1:c.1536+6C>T | NP_001070834.1:n.1536+6C>T | |
| NM_001136113.1:c.1698+6C>T | NP_001129585.1:n.1698+6C>T | |
| NM_001136114.1:c.1347+6C>T | NP_001129586.1:n.1347+6C>T | |
| NM_007171.3:c.1764+6C>T | NP_009102.3:n.1764+6C>T | |
| XM_005272156.1:c.1764+6C>T | XP_005272213.1:n.1764+6C>T | |
| XM_005272158.1:c.1602+6C>T | XP_005272215.1:n.1602+6C>T | |
| XM_005272159.1:c.1413+6C>T | XP_005272216.1:n.1413+6C>T | |
| XM_005272162.1:c.567+6C>T | XP_005272219.1:n.567+6C>T | |
| XM_006716932.1:c.1413+6C>T | XP_006716995.1:n.1413+6C>T | |
| XM_011518140.1:c.1617+6C>T | XP_011516442.1:n.1617+6C>T | |
| XM_011518141.1:c.1551+6C>T | XP_011516443.1:n.1551+6C>T | |
| XM_011518142.1:c.1455+6C>T | XP_011516444.1:n.1455+6C>T | |
| XM_011518143.1:c.1449+6C>T | XP_011516445.1:n.1449+6C>T | |
| XM_011518145.1:c.1308+6C>T | XP_011516447.1:n.1308+6C>T | |
| XM_011518147.1:c.636+6C>T | XP_011516449.1:n.636+6C>T | |
| XR_929703.1:n.1940+6C>T | ||
| NM_001353193.1:c.1764+6C>T | NP_001340122.1:n.1764+6C>T | |
| NM_001353194.1:c.1536+6C>T | NP_001340123.1:n.1536+6C>T | |
| NM_001353195.1:c.1347+6C>T | NP_001340124.1:n.1347+6C>T | |
| NM_001353196.1:c.1608+6C>T | NP_001340125.1:n.1608+6C>T | |
| NM_001353197.1:c.1602+6C>T | NP_001340126.1:n.1602+6C>T | |
| NM_001353198.1:c.1602+6C>T | NP_001340127.1:n.1602+6C>T | |
| NM_001353199.1:c.1413+6C>T | NP_001340128.1:n.1413+6C>T | |
| NM_001353200.1:c.1242+6C>T | NP_001340129.1:n.1242+6C>T | |
| NR_148391.1:n.1748+6C>T | ||
| NR_148392.1:n.1966+6C>T | ||
| NR_148393.1:n.1887+6C>T | ||
| NR_148394.1:n.1641+6C>T | ||
| NR_148395.1:n.2039+6C>T | ||
| NR_148396.1:n.1673+6C>T | ||
| NR_148397.1:n.1798+6C>T | ||
| NR_148398.1:n.1753+6C>T | ||
| NR_148399.1:n.2279+6C>T | ||
| NR_148400.1:n.1878+6C>T | ||
| XM_005272162.3:c.567+6C>T | XP_005272219.1:n.567+6C>T | |
| XM_006716932.2:c.1413+6C>T | XP_006716995.1:n.1413+6C>T | |
| XM_011518140.2:c.1617+6C>T | XP_011516442.1:n.1617+6C>T | |
| XM_011518141.2:c.1551+6C>T | XP_011516443.1:n.1551+6C>T | |
| XM_011518142.2:c.1455+6C>T | XP_011516444.1:n.1455+6C>T | |
| XM_011518143.2:c.1449+6C>T | XP_011516445.1:n.1449+6C>T | |
| XM_011518145.2:c.1308+6C>T | XP_011516447.1:n.1308+6C>T | |
| XM_017014205.2:c.567+6C>T | XP_016869694.1:n.567+6C>T | |
| XM_024447380.1:c.567+6C>T | XP_024303148.1:n.567+6C>T | |
| XM_024447381.1:c.873+6C>T | XP_024303149.1:n.873+6C>T | |
| XM_024447382.1:c.567+6C>T | XP_024303150.1:n.567+6C>T | |
| XR_001746160.2:n.1868+6C>T | ||
| XR_001746162.2:n.2073+6C>T | ||
| XR_001746164.1:n.1790+6C>T | ||
| XR_001746166.2:n.2085+6C>T | ||
| NM_001077365.2:c.1698+6C>T MANE Select | NP_001070833.1:n.1698+6C>T | |
| NM_001077366.2:c.1536+6C>T | NP_001070834.1:n.1536+6C>T | |
| NM_001136113.2:c.1698+6C>T | NP_001129585.1:n.1698+6C>T | |
| NM_001136114.2:c.1347+6C>T | NP_001129586.1:n.1347+6C>T | |
| NM_001353193.2:c.1764+6C>T | NP_001340122.2:n.1764+6C>T | |
| NM_001353194.2:c.1536+6C>T | NP_001340123.1:n.1536+6C>T | |
| NM_001353195.2:c.1347+6C>T | NP_001340124.1:n.1347+6C>T | |
| NM_001353196.2:c.1608+6C>T | NP_001340125.1:n.1608+6C>T | |
| NM_001353197.2:c.1602+6C>T | NP_001340126.2:n.1602+6C>T | |
| NM_001353198.2:c.1602+6C>T | NP_001340127.2:n.1602+6C>T | |
| NM_001353199.2:c.1413+6C>T | NP_001340128.2:n.1413+6C>T | |
| NM_001353200.2:c.1242+6C>T | NP_001340129.1:n.1242+6C>T | |
| NM_001374689.1:c.1686+6C>T | NP_001361618.1:n.1686+6C>T | |
| NM_001374690.1:c.1479+6C>T | NP_001361619.1:n.1479+6C>T | |
| NM_001374691.1:c.1347+6C>T | NP_001361620.1:n.1347+6C>T | |
| NM_001374692.1:c.1347+6C>T | NP_001361621.1:n.1347+6C>T | |
| NM_001374693.1:c.1347+6C>T | NP_001361622.1:n.1347+6C>T | |
| NM_001374695.1:c.1308+6C>T | NP_001361624.1:n.1308+6C>T | |
| NM_007171.4:c.1764+6C>T | NP_009102.4:n.1764+6C>T | |
| NR_148391.2:n.1732+6C>T | ||
| NR_148392.2:n.1950+6C>T | ||
| NR_148393.2:n.1871+6C>T | ||
| NR_148394.2:n.1625+6C>T | ||
| NR_148395.2:n.2023+6C>T | ||
| NR_148396.2:n.1657+6C>T | ||
| NR_148397.2:n.1782+6C>T | ||
| NR_148398.2:n.1737+6C>T | ||
| NR_148399.2:n.2263+6C>T | ||
| NR_148400.2:n.1862+6C>T |