Linked Data
dbSNP Id:
rs780474220
ExAC:
9:134396691 G / A
gnomAD v2:
9-134396691-G-A
gnomAD v4:
9-131521304-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131521304G>A , CM000671.2:g.131521304G>A | GRCh38 |
| NC_000009.11:g.134396691G>A , CM000671.1:g.134396691G>A | GRCh37 |
| NC_000009.10:g.133386512G>A | NCBI36 |
| NG_008896.1:g.23403G>A | |
| NG_008896.2:g.23403G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1537-42G>A | ENSP00000343034.7:n.1537-42G>A | |
| ENST00000404875.7:n.2239-42G>A | ||
| ENST00000423007.6:c.1756-42G>A | ENSP00000404119.2:n.1756-42G>A | |
| ENST00000677295.2:c.*2043-42G>A | ENSP00000504346.2:n.*2043-42G>A | |
| ENST00000678264.2:c.*1882-42G>A | ENSP00000503157.2:n.*1882-42G>A | |
| ENST00000682070.1:n.2164-42G>A | ||
| ENST00000682813.1:n.2103-42G>A | ||
| ENST00000683392.1:n.4446-42G>A | ||
| ENST00000683712.1:n.2104-42G>A | ||
| ENST00000683900.1:n.3599-42G>A | ||
| ENST00000684062.1:n.2365-42G>A | ||
| ENST00000684579.1:n.3545-42G>A | ||
| ENST00000684679.1:n.926-42G>A | ||
| ENST00000341012.12:c.1537-42G>A | ENSP00000343034.7:n.1537-42G>A | |
| ENST00000372220.5:c.568-42G>A | ENSP00000361294.5:n.568-42G>A | |
| ENST00000372228.9:c.1765-42G>A | ENSP00000361302.3:n.1765-42G>A | |
| ENST00000402686.8:c.1699-42G>A MANE Select | ENSP00000385797.4:n.1699-42G>A | |
| ENST00000676640.1:c.1699-42G>A | ENSP00000503281.1:n.1699-42G>A | |
| ENST00000676803.1:c.760-42G>A | ENSP00000503093.1:n.760-42G>A | |
| ENST00000676835.1:c.*914-42G>A | ENSP00000502911.1:n.*914-42G>A | |
| ENST00000677029.1:c.1243-42G>A | ENSP00000502936.1:n.1243-42G>A | |
| ENST00000677099.1:c.*1409-42G>A | ENSP00000504553.1:n.*1409-42G>A | |
| ENST00000677216.1:c.1348-42G>A | ENSP00000503772.1:n.1348-42G>A | |
| ENST00000677221.1:n.724-42G>A | ||
| ENST00000677295.1:c.*1076-42G>A | ENSP00000504346.1:n.*1076-42G>A | |
| ENST00000677444.1:c.1644-42G>A | ||
| ENST00000677586.1:n.1066-42G>A | ||
| ENST00000677626.1:c.1348-42G>A | ENSP00000503552.1:n.1348-42G>A | |
| ENST00000677853.1:c.*707-42G>A | ENSP00000503488.1:n.*707-42G>A | |
| ENST00000678202.1:n.858-42G>A | ||
| ENST00000678264.1:c.*1076-42G>A | ENSP00000503157.1:n.*1076-42G>A | |
| ENST00000678303.1:c.1609-42G>A | ENSP00000503696.1:n.1609-42G>A | |
| ENST00000678366.1:c.*1948-42G>A | ENSP00000504353.1:n.*1948-42G>A | |
| ENST00000678546.1:c.*1644-42G>A | ENSP00000503062.1:n.*1644-42G>A | |
| ENST00000678548.1:c.*1771-42G>A | ENSP00000503934.1:n.*1771-42G>A | |
| ENST00000678626.1:n.1535-42G>A | ||
| ENST00000678739.1:c.*2020-42G>A | ENSP00000503806.1:n.*2020-42G>A | |
| ENST00000678833.1:c.*1451-42G>A | ENSP00000503893.1:n.*1451-42G>A | |
| ENST00000679023.1:c.1537-42G>A | ENSP00000503718.1:n.1537-42G>A | |
| ENST00000679076.1:c.1318-42G>A | ||
| ENST00000679111.1:c.*455-42G>A | ENSP00000504257.1:n.*455-42G>A | |
| ENST00000679189.1:c.1348-42G>A | ENSP00000503356.1:n.1348-42G>A | |
| ENST00000341012.11:c.1537-42G>A | ENSP00000343034.7:n.1537-42G>A | |
| ENST00000372220.4:c.562-42G>A | ENSP00000361294.4:n.562-42G>A | |
| ENST00000372228.7:c.1765-42G>A | ENSP00000361302.3:n.1765-42G>A | |
| ENST00000402686.7:c.1699-42G>A | ENSP00000385797.3:n.1699-42G>A | |
| ENST00000404875.6:c.1348-42G>A | ENSP00000384531.2:n.1348-42G>A | |
| ENST00000423007.5:c.1699-42G>A | ENSP00000404119.1:n.1699-42G>A | |
| ENST00000467848.1:n.403-42G>A | ||
| ENST00000485278.5:n.2249-42G>A | ||
| ENST00000494883.1:n.200G>A | ||
| NM_001077365.1:c.1699-42G>A | NP_001070833.1:n.1699-42G>A | |
| NM_001077366.1:c.1537-42G>A | NP_001070834.1:n.1537-42G>A | |
| NM_001136113.1:c.1699-42G>A | NP_001129585.1:n.1699-42G>A | |
| NM_001136114.1:c.1348-42G>A | NP_001129586.1:n.1348-42G>A | |
| NM_007171.3:c.1765-42G>A | NP_009102.3:n.1765-42G>A | |
| XM_005272156.1:c.1765-42G>A | XP_005272213.1:n.1765-42G>A | |
| XM_005272158.1:c.1603-42G>A | XP_005272215.1:n.1603-42G>A | |
| XM_005272159.1:c.1414-42G>A | XP_005272216.1:n.1414-42G>A | |
| XM_005272162.1:c.568-42G>A | XP_005272219.1:n.568-42G>A | |
| XM_006716932.1:c.1414-42G>A | XP_006716995.1:n.1414-42G>A | |
| XM_011518140.1:c.1618-42G>A | XP_011516442.1:n.1618-42G>A | |
| XM_011518141.1:c.1552-42G>A | XP_011516443.1:n.1552-42G>A | |
| XM_011518142.1:c.1456-42G>A | XP_011516444.1:n.1456-42G>A | |
| XM_011518143.1:c.1450-42G>A | XP_011516445.1:n.1450-42G>A | |
| XM_011518145.1:c.1309-42G>A | XP_011516447.1:n.1309-42G>A | |
| XM_011518147.1:c.637-42G>A | XP_011516449.1:n.637-42G>A | |
| XR_929703.1:n.1941-42G>A | ||
| NM_001353193.1:c.1765-42G>A | NP_001340122.1:n.1765-42G>A | |
| NM_001353194.1:c.1537-42G>A | NP_001340123.1:n.1537-42G>A | |
| NM_001353195.1:c.1348-42G>A | NP_001340124.1:n.1348-42G>A | |
| NM_001353196.1:c.1609-42G>A | NP_001340125.1:n.1609-42G>A | |
| NM_001353197.1:c.1603-42G>A | NP_001340126.1:n.1603-42G>A | |
| NM_001353198.1:c.1603-42G>A | NP_001340127.1:n.1603-42G>A | |
| NM_001353199.1:c.1414-42G>A | NP_001340128.1:n.1414-42G>A | |
| NM_001353200.1:c.1243-42G>A | NP_001340129.1:n.1243-42G>A | |
| NR_148391.1:n.1749-42G>A | ||
| NR_148392.1:n.1967-42G>A | ||
| NR_148393.1:n.1888-42G>A | ||
| NR_148394.1:n.1642-42G>A | ||
| NR_148395.1:n.2040-42G>A | ||
| NR_148396.1:n.1674-42G>A | ||
| NR_148397.1:n.1799-42G>A | ||
| NR_148398.1:n.1754-42G>A | ||
| NR_148399.1:n.2280-42G>A | ||
| NR_148400.1:n.1879-42G>A | ||
| XM_005272162.3:c.568-42G>A | XP_005272219.1:n.568-42G>A | |
| XM_006716932.2:c.1414-42G>A | XP_006716995.1:n.1414-42G>A | |
| XM_011518140.2:c.1618-42G>A | XP_011516442.1:n.1618-42G>A | |
| XM_011518141.2:c.1552-42G>A | XP_011516443.1:n.1552-42G>A | |
| XM_011518142.2:c.1456-42G>A | XP_011516444.1:n.1456-42G>A | |
| XM_011518143.2:c.1450-42G>A | XP_011516445.1:n.1450-42G>A | |
| XM_011518145.2:c.1309-42G>A | XP_011516447.1:n.1309-42G>A | |
| XM_017014205.2:c.568-42G>A | XP_016869694.1:n.568-42G>A | |
| XM_024447380.1:c.568-42G>A | XP_024303148.1:n.568-42G>A | |
| XM_024447381.1:c.874-42G>A | XP_024303149.1:n.874-42G>A | |
| XM_024447382.1:c.568-42G>A | XP_024303150.1:n.568-42G>A | |
| XR_001746160.2:n.1869-42G>A | ||
| XR_001746162.2:n.2074-42G>A | ||
| XR_001746164.1:n.1791-42G>A | ||
| XR_001746166.2:n.2086-42G>A | ||
| NM_001077365.2:c.1699-42G>A MANE Select | NP_001070833.1:n.1699-42G>A | |
| NM_001077366.2:c.1537-42G>A | NP_001070834.1:n.1537-42G>A | |
| NM_001136113.2:c.1699-42G>A | NP_001129585.1:n.1699-42G>A | |
| NM_001136114.2:c.1348-42G>A | NP_001129586.1:n.1348-42G>A | |
| NM_001353193.2:c.1765-42G>A | NP_001340122.2:n.1765-42G>A | |
| NM_001353194.2:c.1537-42G>A | NP_001340123.1:n.1537-42G>A | |
| NM_001353195.2:c.1348-42G>A | NP_001340124.1:n.1348-42G>A | |
| NM_001353196.2:c.1609-42G>A | NP_001340125.1:n.1609-42G>A | |
| NM_001353197.2:c.1603-42G>A | NP_001340126.2:n.1603-42G>A | |
| NM_001353198.2:c.1603-42G>A | NP_001340127.2:n.1603-42G>A | |
| NM_001353199.2:c.1414-42G>A | NP_001340128.2:n.1414-42G>A | |
| NM_001353200.2:c.1243-42G>A | NP_001340129.1:n.1243-42G>A | |
| NM_001374689.1:c.1687-42G>A | NP_001361618.1:n.1687-42G>A | |
| NM_001374690.1:c.1480-42G>A | NP_001361619.1:n.1480-42G>A | |
| NM_001374691.1:c.1348-42G>A | NP_001361620.1:n.1348-42G>A | |
| NM_001374692.1:c.1348-42G>A | NP_001361621.1:n.1348-42G>A | |
| NM_001374693.1:c.1348-42G>A | NP_001361622.1:n.1348-42G>A | |
| NM_001374695.1:c.1309-42G>A | NP_001361624.1:n.1309-42G>A | |
| NM_007171.4:c.1765-42G>A | NP_009102.4:n.1765-42G>A | |
| NR_148391.2:n.1733-42G>A | ||
| NR_148392.2:n.1951-42G>A | ||
| NR_148393.2:n.1872-42G>A | ||
| NR_148394.2:n.1626-42G>A | ||
| NR_148395.2:n.2024-42G>A | ||
| NR_148396.2:n.1658-42G>A | ||
| NR_148397.2:n.1783-42G>A | ||
| NR_148398.2:n.1738-42G>A | ||
| NR_148399.2:n.2264-42G>A | ||
| NR_148400.2:n.1863-42G>A |