Linked Data
ClinVar Variation Id:
511989
dbSNP Id:
rs1366898427
gnomAD v2:
9-134396865-T-C
gnomAD v3:
9-131521478-T-C
gnomAD v4:
9-131521478-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131521478T>C , CM000671.2:g.131521478T>C | GRCh38 |
| NC_000009.11:g.134396865T>C , CM000671.1:g.134396865T>C | GRCh37 |
| NC_000009.10:g.133386686T>C | NCBI36 |
| NG_008896.1:g.23577T>C | |
| NG_008896.2:g.23577T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1663+6T>C | ENSP00000343034.7:n.1663+6T>C | |
| ENST00000404875.7:n.2365+6T>C | ||
| ENST00000423007.6:c.1882+6T>C | ENSP00000404119.2:n.1882+6T>C | |
| ENST00000677295.2:c.*2169+6T>C | ENSP00000504346.2:n.*2169+6T>C | |
| ENST00000678264.2:c.*2008+6T>C | ENSP00000503157.2:n.*2008+6T>C | |
| ENST00000682070.1:n.2290+6T>C | ||
| ENST00000682813.1:n.2229+6T>C | ||
| ENST00000683392.1:n.4572+6T>C | ||
| ENST00000683712.1:n.2230+6T>C | ||
| ENST00000683900.1:n.3725+6T>C | ||
| ENST00000684062.1:n.2491+6T>C | ||
| ENST00000684579.1:n.3671+6T>C | ||
| ENST00000684679.1:n.1052+6T>C | ||
| ENST00000341012.12:c.1663+6T>C | ENSP00000343034.7:n.1663+6T>C | |
| ENST00000372220.5:c.694+6T>C | ENSP00000361294.5:n.694+6T>C | |
| ENST00000372228.9:c.1891+6T>C | ENSP00000361302.3:n.1891+6T>C | |
| ENST00000402686.8:c.1825+6T>C MANE Select | ENSP00000385797.4:n.1825+6T>C | |
| ENST00000676640.1:c.1825+6T>C | ENSP00000503281.1:n.1825+6T>C | |
| ENST00000676803.1:c.886+6T>C | ENSP00000503093.1:n.886+6T>C | |
| ENST00000676835.1:c.*1040+6T>C | ENSP00000502911.1:n.*1040+6T>C | |
| ENST00000677029.1:c.1369+6T>C | ENSP00000502936.1:n.1369+6T>C | |
| ENST00000677099.1:c.*1535+6T>C | ENSP00000504553.1:n.*1535+6T>C | |
| ENST00000677216.1:c.1474+6T>C | ENSP00000503772.1:n.1474+6T>C | |
| ENST00000677221.1:n.850+6T>C | ||
| ENST00000677295.1:c.*1202+6T>C | ENSP00000504346.1:n.*1202+6T>C | |
| ENST00000677444.1:c.1770+6T>C | ||
| ENST00000677586.1:n.1192+6T>C | ||
| ENST00000677626.1:c.1474+6T>C | ENSP00000503552.1:n.1474+6T>C | |
| ENST00000677853.1:c.*833+6T>C | ENSP00000503488.1:n.*833+6T>C | |
| ENST00000678202.1:n.984+6T>C | ||
| ENST00000678264.1:c.*1202+6T>C | ENSP00000503157.1:n.*1202+6T>C | |
| ENST00000678303.1:c.1735+6T>C | ENSP00000503696.1:n.1735+6T>C | |
| ENST00000678366.1:c.*2074+6T>C | ENSP00000504353.1:n.*2074+6T>C | |
| ENST00000678546.1:c.*1770+6T>C | ENSP00000503062.1:n.*1770+6T>C | |
| ENST00000678548.1:c.*1897+6T>C | ENSP00000503934.1:n.*1897+6T>C | |
| ENST00000678626.1:n.1661+6T>C | ||
| ENST00000678739.1:c.*2146+6T>C | ENSP00000503806.1:n.*2146+6T>C | |
| ENST00000678833.1:c.*1577+6T>C | ENSP00000503893.1:n.*1577+6T>C | |
| ENST00000679023.1:c.1663+6T>C | ENSP00000503718.1:n.1663+6T>C | |
| ENST00000679076.1:c.1444+6T>C | ||
| ENST00000679111.1:c.*581+6T>C | ENSP00000504257.1:n.*581+6T>C | |
| ENST00000679189.1:c.1474+6T>C | ENSP00000503356.1:n.1474+6T>C | |
| ENST00000341012.11:c.1663+6T>C | ENSP00000343034.7:n.1663+6T>C | |
| ENST00000372220.4:c.688+6T>C | ENSP00000361294.4:n.688+6T>C | |
| ENST00000372228.7:c.1891+6T>C | ENSP00000361302.3:n.1891+6T>C | |
| ENST00000402686.7:c.1825+6T>C | ENSP00000385797.3:n.1825+6T>C | |
| ENST00000404875.6:c.1474+6T>C | ENSP00000384531.2:n.1474+6T>C | |
| ENST00000423007.5:c.1825+6T>C | ENSP00000404119.1:n.1825+6T>C | |
| ENST00000485278.5:n.2375+6T>C | ||
| ENST00000494883.1:n.368+6T>C | ||
| NM_001077365.1:c.1825+6T>C | NP_001070833.1:n.1825+6T>C | |
| NM_001077366.1:c.1663+6T>C | NP_001070834.1:n.1663+6T>C | |
| NM_001136113.1:c.1825+6T>C | NP_001129585.1:n.1825+6T>C | |
| NM_001136114.1:c.1474+6T>C | NP_001129586.1:n.1474+6T>C | |
| NM_007171.3:c.1891+6T>C | NP_009102.3:n.1891+6T>C | |
| XM_005272156.1:c.1891+6T>C | XP_005272213.1:n.1891+6T>C | |
| XM_005272158.1:c.1729+6T>C | XP_005272215.1:n.1729+6T>C | |
| XM_005272159.1:c.1540+6T>C | XP_005272216.1:n.1540+6T>C | |
| XM_005272162.1:c.694+6T>C | XP_005272219.1:n.694+6T>C | |
| XM_006716932.1:c.1540+6T>C | XP_006716995.1:n.1540+6T>C | |
| XM_011518140.1:c.1744+6T>C | XP_011516442.1:n.1744+6T>C | |
| XM_011518141.1:c.1678+6T>C | XP_011516443.1:n.1678+6T>C | |
| XM_011518142.1:c.1582+6T>C | XP_011516444.1:n.1582+6T>C | |
| XM_011518143.1:c.1576+6T>C | XP_011516445.1:n.1576+6T>C | |
| XM_011518145.1:c.1435+6T>C | XP_011516447.1:n.1435+6T>C | |
| XM_011518147.1:c.763+6T>C | XP_011516449.1:n.763+6T>C | |
| XR_929703.1:n.2067+6T>C | ||
| NM_001353193.1:c.1891+6T>C | NP_001340122.1:n.1891+6T>C | |
| NM_001353194.1:c.1663+6T>C | NP_001340123.1:n.1663+6T>C | |
| NM_001353195.1:c.1474+6T>C | NP_001340124.1:n.1474+6T>C | |
| NM_001353196.1:c.1735+6T>C | NP_001340125.1:n.1735+6T>C | |
| NM_001353197.1:c.1729+6T>C | NP_001340126.1:n.1729+6T>C | |
| NM_001353198.1:c.1729+6T>C | NP_001340127.1:n.1729+6T>C | |
| NM_001353199.1:c.1540+6T>C | NP_001340128.1:n.1540+6T>C | |
| NM_001353200.1:c.1369+6T>C | NP_001340129.1:n.1369+6T>C | |
| NR_148391.1:n.1875+6T>C | ||
| NR_148392.1:n.2093+6T>C | ||
| NR_148393.1:n.2014+6T>C | ||
| NR_148394.1:n.1768+6T>C | ||
| NR_148395.1:n.2166+6T>C | ||
| NR_148396.1:n.1800+6T>C | ||
| NR_148397.1:n.1925+6T>C | ||
| NR_148398.1:n.1880+6T>C | ||
| NR_148399.1:n.2406+6T>C | ||
| NR_148400.1:n.2005+6T>C | ||
| XM_005272162.3:c.694+6T>C | XP_005272219.1:n.694+6T>C | |
| XM_006716932.2:c.1540+6T>C | XP_006716995.1:n.1540+6T>C | |
| XM_011518140.2:c.1744+6T>C | XP_011516442.1:n.1744+6T>C | |
| XM_011518141.2:c.1678+6T>C | XP_011516443.1:n.1678+6T>C | |
| XM_011518142.2:c.1582+6T>C | XP_011516444.1:n.1582+6T>C | |
| XM_011518143.2:c.1576+6T>C | XP_011516445.1:n.1576+6T>C | |
| XM_011518145.2:c.1435+6T>C | XP_011516447.1:n.1435+6T>C | |
| XM_017014205.2:c.694+6T>C | XP_016869694.1:n.694+6T>C | |
| XM_024447380.1:c.694+6T>C | XP_024303148.1:n.694+6T>C | |
| XM_024447381.1:c.1000+6T>C | XP_024303149.1:n.1000+6T>C | |
| XM_024447382.1:c.694+6T>C | XP_024303150.1:n.694+6T>C | |
| XR_001746160.2:n.1995+6T>C | ||
| XR_001746162.2:n.2200+6T>C | ||
| XR_001746164.1:n.1917+6T>C | ||
| XR_001746166.2:n.2212+6T>C | ||
| NM_001077365.2:c.1825+6T>C MANE Select | NP_001070833.1:n.1825+6T>C | |
| NM_001077366.2:c.1663+6T>C | NP_001070834.1:n.1663+6T>C | |
| NM_001136113.2:c.1825+6T>C | NP_001129585.1:n.1825+6T>C | |
| NM_001136114.2:c.1474+6T>C | NP_001129586.1:n.1474+6T>C | |
| NM_001353193.2:c.1891+6T>C | NP_001340122.2:n.1891+6T>C | |
| NM_001353194.2:c.1663+6T>C | NP_001340123.1:n.1663+6T>C | |
| NM_001353195.2:c.1474+6T>C | NP_001340124.1:n.1474+6T>C | |
| NM_001353196.2:c.1735+6T>C | NP_001340125.1:n.1735+6T>C | |
| NM_001353197.2:c.1729+6T>C | NP_001340126.2:n.1729+6T>C | |
| NM_001353198.2:c.1729+6T>C | NP_001340127.2:n.1729+6T>C | |
| NM_001353199.2:c.1540+6T>C | NP_001340128.2:n.1540+6T>C | |
| NM_001353200.2:c.1369+6T>C | NP_001340129.1:n.1369+6T>C | |
| NM_001374689.1:c.1813+6T>C | NP_001361618.1:n.1813+6T>C | |
| NM_001374690.1:c.1606+6T>C | NP_001361619.1:n.1606+6T>C | |
| NM_001374691.1:c.1474+6T>C | NP_001361620.1:n.1474+6T>C | |
| NM_001374692.1:c.1474+6T>C | NP_001361621.1:n.1474+6T>C | |
| NM_001374693.1:c.1474+6T>C | NP_001361622.1:n.1474+6T>C | |
| NM_001374695.1:c.1435+6T>C | NP_001361624.1:n.1435+6T>C | |
| NM_007171.4:c.1891+6T>C | NP_009102.4:n.1891+6T>C | |
| NR_148391.2:n.1859+6T>C | ||
| NR_148392.2:n.2077+6T>C | ||
| NR_148393.2:n.1998+6T>C | ||
| NR_148394.2:n.1752+6T>C | ||
| NR_148395.2:n.2150+6T>C | ||
| NR_148396.2:n.1784+6T>C | ||
| NR_148397.2:n.1909+6T>C | ||
| NR_148398.2:n.1864+6T>C | ||
| NR_148399.2:n.2390+6T>C | ||
| NR_148400.2:n.1989+6T>C |