Linked Data
ClinVar Variation Id:
1635265
ClinVar RCV Id:
RCV002133313
dbSNP Id:
rs200195080
ExAC:
9:134396876 C / T
gnomAD v2:
9-134396876-C-T
gnomAD v3:
9-131521489-C-T
gnomAD v4:
9-131521489-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131521489C>T , CM000671.2:g.131521489C>T | GRCh38 |
| NC_000009.11:g.134396876C>T , CM000671.1:g.134396876C>T | GRCh37 |
| NC_000009.10:g.133386697C>T | NCBI36 |
| NG_008896.1:g.23588C>T | |
| NG_008896.2:g.23588C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1663+17C>T | ENSP00000343034.7:n.1663+17C>T | |
| ENST00000404875.7:n.2365+17C>T | ||
| ENST00000423007.6:c.1882+17C>T | ENSP00000404119.2:n.1882+17C>T | |
| ENST00000677295.2:c.*2169+17C>T | ENSP00000504346.2:n.*2169+17C>T | |
| ENST00000678264.2:c.*2008+17C>T | ENSP00000503157.2:n.*2008+17C>T | |
| ENST00000682070.1:n.2290+17C>T | ||
| ENST00000682813.1:n.2229+17C>T | ||
| ENST00000683392.1:n.4572+17C>T | ||
| ENST00000683712.1:n.2230+17C>T | ||
| ENST00000683900.1:n.3725+17C>T | ||
| ENST00000684062.1:n.2491+17C>T | ||
| ENST00000684579.1:n.3671+17C>T | ||
| ENST00000684679.1:n.1052+17C>T | ||
| ENST00000341012.12:c.1663+17C>T | ENSP00000343034.7:n.1663+17C>T | |
| ENST00000372220.5:c.694+17C>T | ENSP00000361294.5:n.694+17C>T | |
| ENST00000372228.9:c.1891+17C>T | ENSP00000361302.3:n.1891+17C>T | |
| ENST00000402686.8:c.1825+17C>T MANE Select | ENSP00000385797.4:n.1825+17C>T | |
| ENST00000676640.1:c.1825+17C>T | ENSP00000503281.1:n.1825+17C>T | |
| ENST00000676803.1:c.886+17C>T | ENSP00000503093.1:n.886+17C>T | |
| ENST00000676835.1:c.*1040+17C>T | ENSP00000502911.1:n.*1040+17C>T | |
| ENST00000677029.1:c.1369+17C>T | ENSP00000502936.1:n.1369+17C>T | |
| ENST00000677099.1:c.*1535+17C>T | ENSP00000504553.1:n.*1535+17C>T | |
| ENST00000677216.1:c.1474+17C>T | ENSP00000503772.1:n.1474+17C>T | |
| ENST00000677221.1:n.850+17C>T | ||
| ENST00000677295.1:c.*1202+17C>T | ENSP00000504346.1:n.*1202+17C>T | |
| ENST00000677444.1:c.1770+17C>T | ||
| ENST00000677586.1:n.1192+17C>T | ||
| ENST00000677626.1:c.1474+17C>T | ENSP00000503552.1:n.1474+17C>T | |
| ENST00000677853.1:c.*833+17C>T | ENSP00000503488.1:n.*833+17C>T | |
| ENST00000678202.1:n.984+17C>T | ||
| ENST00000678264.1:c.*1202+17C>T | ENSP00000503157.1:n.*1202+17C>T | |
| ENST00000678303.1:c.1735+17C>T | ENSP00000503696.1:n.1735+17C>T | |
| ENST00000678366.1:c.*2074+17C>T | ENSP00000504353.1:n.*2074+17C>T | |
| ENST00000678546.1:c.*1770+17C>T | ENSP00000503062.1:n.*1770+17C>T | |
| ENST00000678548.1:c.*1897+17C>T | ENSP00000503934.1:n.*1897+17C>T | |
| ENST00000678626.1:n.1661+17C>T | ||
| ENST00000678739.1:c.*2146+17C>T | ENSP00000503806.1:n.*2146+17C>T | |
| ENST00000678833.1:c.*1577+17C>T | ENSP00000503893.1:n.*1577+17C>T | |
| ENST00000679023.1:c.1663+17C>T | ENSP00000503718.1:n.1663+17C>T | |
| ENST00000679076.1:c.1444+17C>T | ||
| ENST00000679111.1:c.*581+17C>T | ENSP00000504257.1:n.*581+17C>T | |
| ENST00000679189.1:c.1474+17C>T | ENSP00000503356.1:n.1474+17C>T | |
| ENST00000341012.11:c.1663+17C>T | ENSP00000343034.7:n.1663+17C>T | |
| ENST00000372220.4:c.688+17C>T | ENSP00000361294.4:n.688+17C>T | |
| ENST00000372228.7:c.1891+17C>T | ENSP00000361302.3:n.1891+17C>T | |
| ENST00000402686.7:c.1825+17C>T | ENSP00000385797.3:n.1825+17C>T | |
| ENST00000404875.6:c.1474+17C>T | ENSP00000384531.2:n.1474+17C>T | |
| ENST00000423007.5:c.1825+17C>T | ENSP00000404119.1:n.1825+17C>T | |
| ENST00000485278.5:n.2375+17C>T | ||
| ENST00000494883.1:n.368+17C>T | ||
| NM_001077365.1:c.1825+17C>T | NP_001070833.1:n.1825+17C>T | |
| NM_001077366.1:c.1663+17C>T | NP_001070834.1:n.1663+17C>T | |
| NM_001136113.1:c.1825+17C>T | NP_001129585.1:n.1825+17C>T | |
| NM_001136114.1:c.1474+17C>T | NP_001129586.1:n.1474+17C>T | |
| NM_007171.3:c.1891+17C>T | NP_009102.3:n.1891+17C>T | |
| XM_005272156.1:c.1891+17C>T | XP_005272213.1:n.1891+17C>T | |
| XM_005272158.1:c.1729+17C>T | XP_005272215.1:n.1729+17C>T | |
| XM_005272159.1:c.1540+17C>T | XP_005272216.1:n.1540+17C>T | |
| XM_005272162.1:c.694+17C>T | XP_005272219.1:n.694+17C>T | |
| XM_006716932.1:c.1540+17C>T | XP_006716995.1:n.1540+17C>T | |
| XM_011518140.1:c.1744+17C>T | XP_011516442.1:n.1744+17C>T | |
| XM_011518141.1:c.1678+17C>T | XP_011516443.1:n.1678+17C>T | |
| XM_011518142.1:c.1582+17C>T | XP_011516444.1:n.1582+17C>T | |
| XM_011518143.1:c.1576+17C>T | XP_011516445.1:n.1576+17C>T | |
| XM_011518145.1:c.1435+17C>T | XP_011516447.1:n.1435+17C>T | |
| XM_011518147.1:c.763+17C>T | XP_011516449.1:n.763+17C>T | |
| XR_929703.1:n.2067+17C>T | ||
| NM_001353193.1:c.1891+17C>T | NP_001340122.1:n.1891+17C>T | |
| NM_001353194.1:c.1663+17C>T | NP_001340123.1:n.1663+17C>T | |
| NM_001353195.1:c.1474+17C>T | NP_001340124.1:n.1474+17C>T | |
| NM_001353196.1:c.1735+17C>T | NP_001340125.1:n.1735+17C>T | |
| NM_001353197.1:c.1729+17C>T | NP_001340126.1:n.1729+17C>T | |
| NM_001353198.1:c.1729+17C>T | NP_001340127.1:n.1729+17C>T | |
| NM_001353199.1:c.1540+17C>T | NP_001340128.1:n.1540+17C>T | |
| NM_001353200.1:c.1369+17C>T | NP_001340129.1:n.1369+17C>T | |
| NR_148391.1:n.1875+17C>T | ||
| NR_148392.1:n.2093+17C>T | ||
| NR_148393.1:n.2014+17C>T | ||
| NR_148394.1:n.1768+17C>T | ||
| NR_148395.1:n.2166+17C>T | ||
| NR_148396.1:n.1800+17C>T | ||
| NR_148397.1:n.1925+17C>T | ||
| NR_148398.1:n.1880+17C>T | ||
| NR_148399.1:n.2406+17C>T | ||
| NR_148400.1:n.2005+17C>T | ||
| XM_005272162.3:c.694+17C>T | XP_005272219.1:n.694+17C>T | |
| XM_006716932.2:c.1540+17C>T | XP_006716995.1:n.1540+17C>T | |
| XM_011518140.2:c.1744+17C>T | XP_011516442.1:n.1744+17C>T | |
| XM_011518141.2:c.1678+17C>T | XP_011516443.1:n.1678+17C>T | |
| XM_011518142.2:c.1582+17C>T | XP_011516444.1:n.1582+17C>T | |
| XM_011518143.2:c.1576+17C>T | XP_011516445.1:n.1576+17C>T | |
| XM_011518145.2:c.1435+17C>T | XP_011516447.1:n.1435+17C>T | |
| XM_017014205.2:c.694+17C>T | XP_016869694.1:n.694+17C>T | |
| XM_024447380.1:c.694+17C>T | XP_024303148.1:n.694+17C>T | |
| XM_024447381.1:c.1000+17C>T | XP_024303149.1:n.1000+17C>T | |
| XM_024447382.1:c.694+17C>T | XP_024303150.1:n.694+17C>T | |
| XR_001746160.2:n.1995+17C>T | ||
| XR_001746162.2:n.2200+17C>T | ||
| XR_001746164.1:n.1917+17C>T | ||
| XR_001746166.2:n.2212+17C>T | ||
| NM_001077365.2:c.1825+17C>T MANE Select | NP_001070833.1:n.1825+17C>T | |
| NM_001077366.2:c.1663+17C>T | NP_001070834.1:n.1663+17C>T | |
| NM_001136113.2:c.1825+17C>T | NP_001129585.1:n.1825+17C>T | |
| NM_001136114.2:c.1474+17C>T | NP_001129586.1:n.1474+17C>T | |
| NM_001353193.2:c.1891+17C>T | NP_001340122.2:n.1891+17C>T | |
| NM_001353194.2:c.1663+17C>T | NP_001340123.1:n.1663+17C>T | |
| NM_001353195.2:c.1474+17C>T | NP_001340124.1:n.1474+17C>T | |
| NM_001353196.2:c.1735+17C>T | NP_001340125.1:n.1735+17C>T | |
| NM_001353197.2:c.1729+17C>T | NP_001340126.2:n.1729+17C>T | |
| NM_001353198.2:c.1729+17C>T | NP_001340127.2:n.1729+17C>T | |
| NM_001353199.2:c.1540+17C>T | NP_001340128.2:n.1540+17C>T | |
| NM_001353200.2:c.1369+17C>T | NP_001340129.1:n.1369+17C>T | |
| NM_001374689.1:c.1813+17C>T | NP_001361618.1:n.1813+17C>T | |
| NM_001374690.1:c.1606+17C>T | NP_001361619.1:n.1606+17C>T | |
| NM_001374691.1:c.1474+17C>T | NP_001361620.1:n.1474+17C>T | |
| NM_001374692.1:c.1474+17C>T | NP_001361621.1:n.1474+17C>T | |
| NM_001374693.1:c.1474+17C>T | NP_001361622.1:n.1474+17C>T | |
| NM_001374695.1:c.1435+17C>T | NP_001361624.1:n.1435+17C>T | |
| NM_007171.4:c.1891+17C>T | NP_009102.4:n.1891+17C>T | |
| NR_148391.2:n.1859+17C>T | ||
| NR_148392.2:n.2077+17C>T | ||
| NR_148393.2:n.1998+17C>T | ||
| NR_148394.2:n.1752+17C>T | ||
| NR_148395.2:n.2150+17C>T | ||
| NR_148396.2:n.1784+17C>T | ||
| NR_148397.2:n.1909+17C>T | ||
| NR_148398.2:n.1864+17C>T | ||
| NR_148399.2:n.2390+17C>T | ||
| NR_148400.2:n.1989+17C>T |