Linked Data
ClinVar Variation Id:
436377
dbSNP Id:
rs747783069
ExAC:
9:134394771 G / T
gnomAD v2:
9-134394771-G-T
gnomAD v3:
9-131519384-G-T
gnomAD v4:
9-131519384-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131519384G>T , CM000671.2:g.131519384G>T | GRCh38 |
| NC_000009.11:g.134394771G>T , CM000671.1:g.134394771G>T | GRCh37 |
| NC_000009.10:g.133384592G>T | NCBI36 |
| NG_008896.1:g.21483G>T | |
| NG_008896.2:g.21483G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1325-5G>T | ENSP00000343034.7:n.1325-5G>T | |
| ENST00000404875.7:n.2027-5G>T | ||
| ENST00000423007.6:c.1544-5G>T | ENSP00000404119.2:n.1544-5G>T | |
| ENST00000677295.2:c.*1831-5G>T | ENSP00000504346.2:n.*1831-5G>T | |
| ENST00000678264.2:c.*1670-5G>T | ENSP00000503157.2:n.*1670-5G>T | |
| ENST00000682070.1:n.1952-5G>T | ||
| ENST00000682813.1:n.1891-5G>T | ||
| ENST00000683392.1:n.4234-5G>T | ||
| ENST00000683712.1:n.1892-5G>T | ||
| ENST00000683900.1:n.3387-5G>T | ||
| ENST00000684062.1:n.2153-5G>T | ||
| ENST00000684579.1:n.3333-5G>T | ||
| ENST00000684679.1:n.714-5G>T | ||
| ENST00000341012.12:c.1325-5G>T | ENSP00000343034.7:n.1325-5G>T | |
| ENST00000372220.5:c.356-5G>T | ENSP00000361294.5:n.356-5G>T | |
| ENST00000372228.9:c.1553-5G>T | ENSP00000361302.3:n.1553-5G>T | |
| ENST00000402686.8:c.1487-5G>T MANE Select | ENSP00000385797.4:n.1487-5G>T | |
| ENST00000676640.1:c.1487-5G>T | ENSP00000503281.1:n.1487-5G>T | |
| ENST00000676803.1:c.662-5G>T | ENSP00000503093.1:n.662-5G>T | |
| ENST00000676835.1:c.*702-5G>T | ENSP00000502911.1:n.*702-5G>T | |
| ENST00000677029.1:c.1031-5G>T | ENSP00000502936.1:n.1031-5G>T | |
| ENST00000677099.1:c.*1197-5G>T | ENSP00000504553.1:n.*1197-5G>T | |
| ENST00000677216.1:c.1136-5G>T | ENSP00000503772.1:n.1136-5G>T | |
| ENST00000677221.1:n.512-5G>T | ||
| ENST00000677295.1:c.*864-5G>T | ENSP00000504346.1:n.*864-5G>T | |
| ENST00000677444.1:c.1432-5G>T | ||
| ENST00000677586.1:n.968-5G>T | ||
| ENST00000677626.1:c.1136-5G>T | ENSP00000503552.1:n.1136-5G>T | |
| ENST00000677677.1:n.1447-5G>T | ||
| ENST00000677853.1:c.*495-5G>T | ENSP00000503488.1:n.*495-5G>T | |
| ENST00000678202.1:n.646-5G>T | ||
| ENST00000678264.1:c.*864-5G>T | ENSP00000503157.1:n.*864-5G>T | |
| ENST00000678303.1:c.1397-5G>T | ENSP00000503696.1:n.1397-5G>T | |
| ENST00000678366.1:c.*1736-5G>T | ENSP00000504353.1:n.*1736-5G>T | |
| ENST00000678546.1:c.*1432-5G>T | ENSP00000503062.1:n.*1432-5G>T | |
| ENST00000678548.1:c.*1559-5G>T | ENSP00000503934.1:n.*1559-5G>T | |
| ENST00000678626.1:n.1323-5G>T | ||
| ENST00000678733.1:c.568-5G>T | ||
| ENST00000678739.1:c.*1813-10G>T | ENSP00000503806.1:n.*1813-10G>T | |
| ENST00000678833.1:c.*1234G>T | ENSP00000503893.1:n.*1234G>T | |
| ENST00000679023.1:c.1325-5G>T | ENSP00000503718.1:n.1325-5G>T | |
| ENST00000679076.1:c.1106-5G>T | ||
| ENST00000679111.1:c.*243-5G>T | ENSP00000504257.1:n.*243-5G>T | |
| ENST00000679189.1:c.1136-5G>T | ENSP00000503356.1:n.1136-5G>T | |
| ENST00000341012.11:c.1325-5G>T | ENSP00000343034.7:n.1325-5G>T | |
| ENST00000372220.4:c.350-5G>T | ENSP00000361294.4:n.350-5G>T | |
| ENST00000372228.7:c.1553-5G>T | ENSP00000361302.3:n.1553-5G>T | |
| ENST00000402686.7:c.1487-5G>T | ENSP00000385797.3:n.1487-5G>T | |
| ENST00000404875.6:c.1136-5G>T | ENSP00000384531.2:n.1136-5G>T | |
| ENST00000423007.5:c.1487-5G>T | ENSP00000404119.1:n.1487-5G>T | |
| ENST00000467848.1:n.191-5G>T | ||
| ENST00000485278.5:n.2042-10G>T | ||
| NM_001077365.1:c.1487-5G>T | NP_001070833.1:n.1487-5G>T | |
| NM_001077366.1:c.1325-5G>T | NP_001070834.1:n.1325-5G>T | |
| NM_001136113.1:c.1487-5G>T | NP_001129585.1:n.1487-5G>T | |
| NM_001136114.1:c.1136-5G>T | NP_001129586.1:n.1136-5G>T | |
| NM_007171.3:c.1553-5G>T | NP_009102.3:n.1553-5G>T | |
| XM_005272156.1:c.1553-5G>T | XP_005272213.1:n.1553-5G>T | |
| XM_005272158.1:c.1391-5G>T | XP_005272215.1:n.1391-5G>T | |
| XM_005272159.1:c.1202-5G>T | XP_005272216.1:n.1202-5G>T | |
| XM_005272162.1:c.356-5G>T | XP_005272219.1:n.356-5G>T | |
| XM_006716932.1:c.1202-5G>T | XP_006716995.1:n.1202-5G>T | |
| XM_011518140.1:c.1406-5G>T | XP_011516442.1:n.1406-5G>T | |
| XM_011518141.1:c.1340-5G>T | XP_011516443.1:n.1340-5G>T | |
| XM_011518142.1:c.1244-5G>T | XP_011516444.1:n.1244-5G>T | |
| XM_011518143.1:c.1238-5G>T | XP_011516445.1:n.1238-5G>T | |
| XM_011518145.1:c.1097-5G>T | XP_011516447.1:n.1097-5G>T | |
| XM_011518147.1:c.425-5G>T | XP_011516449.1:n.425-5G>T | |
| XR_929703.1:n.1729-5G>T | ||
| NM_001353193.1:c.1553-5G>T | NP_001340122.1:n.1553-5G>T | |
| NM_001353194.1:c.1325-5G>T | NP_001340123.1:n.1325-5G>T | |
| NM_001353195.1:c.1136-5G>T | NP_001340124.1:n.1136-5G>T | |
| NM_001353196.1:c.1397-5G>T | NP_001340125.1:n.1397-5G>T | |
| NM_001353197.1:c.1391-5G>T | NP_001340126.1:n.1391-5G>T | |
| NM_001353198.1:c.1391-5G>T | NP_001340127.1:n.1391-5G>T | |
| NM_001353199.1:c.1202-5G>T | NP_001340128.1:n.1202-5G>T | |
| NM_001353200.1:c.1031-5G>T | NP_001340129.1:n.1031-5G>T | |
| NR_148391.1:n.1537-5G>T | ||
| NR_148392.1:n.1755-5G>T | ||
| NR_148393.1:n.1676-5G>T | ||
| NR_148394.1:n.1430-5G>T | ||
| NR_148395.1:n.1828-5G>T | ||
| NR_148396.1:n.1462-5G>T | ||
| NR_148397.1:n.1587-5G>T | ||
| NR_148398.1:n.1542-5G>T | ||
| NR_148399.1:n.2068-5G>T | ||
| NR_148400.1:n.1667-5G>T | ||
| XM_005272162.3:c.356-5G>T | XP_005272219.1:n.356-5G>T | |
| XM_006716932.2:c.1202-5G>T | XP_006716995.1:n.1202-5G>T | |
| XM_011518140.2:c.1406-5G>T | XP_011516442.1:n.1406-5G>T | |
| XM_011518141.2:c.1340-5G>T | XP_011516443.1:n.1340-5G>T | |
| XM_011518142.2:c.1244-5G>T | XP_011516444.1:n.1244-5G>T | |
| XM_011518143.2:c.1238-5G>T | XP_011516445.1:n.1238-5G>T | |
| XM_011518145.2:c.1097-5G>T | XP_011516447.1:n.1097-5G>T | |
| XM_017014205.2:c.356-5G>T | XP_016869694.1:n.356-5G>T | |
| XM_024447380.1:c.356-5G>T | XP_024303148.1:n.356-5G>T | |
| XM_024447381.1:c.662-5G>T | XP_024303149.1:n.662-5G>T | |
| XM_024447382.1:c.356-5G>T | XP_024303150.1:n.356-5G>T | |
| XR_001746160.2:n.1657-5G>T | ||
| XR_001746162.2:n.1862-5G>T | ||
| XR_001746164.1:n.1579-5G>T | ||
| XR_001746166.2:n.1874-5G>T | ||
| NM_001077365.2:c.1487-5G>T MANE Select | NP_001070833.1:n.1487-5G>T | |
| NM_001077366.2:c.1325-5G>T | NP_001070834.1:n.1325-5G>T | |
| NM_001136113.2:c.1487-5G>T | NP_001129585.1:n.1487-5G>T | |
| NM_001136114.2:c.1136-5G>T | NP_001129586.1:n.1136-5G>T | |
| NM_001353193.2:c.1553-5G>T | NP_001340122.2:n.1553-5G>T | |
| NM_001353194.2:c.1325-5G>T | NP_001340123.1:n.1325-5G>T | |
| NM_001353195.2:c.1136-5G>T | NP_001340124.1:n.1136-5G>T | |
| NM_001353196.2:c.1397-5G>T | NP_001340125.1:n.1397-5G>T | |
| NM_001353197.2:c.1391-5G>T | NP_001340126.2:n.1391-5G>T | |
| NM_001353198.2:c.1391-5G>T | NP_001340127.2:n.1391-5G>T | |
| NM_001353199.2:c.1202-5G>T | NP_001340128.2:n.1202-5G>T | |
| NM_001353200.2:c.1031-5G>T | NP_001340129.1:n.1031-5G>T | |
| NM_001374689.1:c.1475-5G>T | NP_001361618.1:n.1475-5G>T | |
| NM_001374690.1:c.1366-696G>T | NP_001361619.1:n.1366-696G>T | |
| NM_001374691.1:c.1136-5G>T | NP_001361620.1:n.1136-5G>T | |
| NM_001374692.1:c.1136-5G>T | NP_001361621.1:n.1136-5G>T | |
| NM_001374693.1:c.1136-5G>T | NP_001361622.1:n.1136-5G>T | |
| NM_001374695.1:c.1097-5G>T | NP_001361624.1:n.1097-5G>T | |
| NM_007171.4:c.1553-5G>T | NP_009102.4:n.1553-5G>T | |
| NR_148391.2:n.1521-5G>T | ||
| NR_148392.2:n.1739-5G>T | ||
| NR_148393.2:n.1660-5G>T | ||
| NR_148394.2:n.1414-5G>T | ||
| NR_148395.2:n.1812-5G>T | ||
| NR_148396.2:n.1446-5G>T | ||
| NR_148397.2:n.1571-5G>T | ||
| NR_148398.2:n.1526-5G>T | ||
| NR_148399.2:n.2052-5G>T | ||
| NR_148400.2:n.1651-5G>T |