Linked Data
ClinVar Variation Id:
290632
dbSNP Id:
rs757830349
ExAC:
9:134395529 G / A
gnomAD v2:
9-134395529-G-A
gnomAD v3:
9-131520142-G-A
gnomAD v4:
9-131520142-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131520142G>A , CM000671.2:g.131520142G>A | GRCh38 |
| NC_000009.11:g.134395529G>A , CM000671.1:g.134395529G>A | GRCh37 |
| NC_000009.10:g.133385350G>A | NCBI36 |
| NG_008896.1:g.22241G>A | |
| NG_008896.2:g.22241G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1485G>A | ENSP00000343034.7:p.Glu495= | |
| ENST00000404875.7:n.2187G>A | ||
| ENST00000423007.6:c.1704G>A | ENSP00000404119.2:p.Glu568= | |
| ENST00000677295.2:c.*1991G>A | ENSP00000504346.2:n.*1991G>A | |
| ENST00000678264.2:c.*1830G>A | ENSP00000503157.2:n.*1830G>A | |
| ENST00000682070.1:n.2112G>A | ||
| ENST00000682813.1:n.2051G>A | ||
| ENST00000683392.1:n.4394G>A | ||
| ENST00000683712.1:n.2052G>A | ||
| ENST00000683900.1:n.3547G>A | ||
| ENST00000684062.1:n.2313G>A | ||
| ENST00000684579.1:n.3493G>A | ||
| ENST00000684679.1:n.874G>A | ||
| ENST00000341012.12:c.1485G>A | ENSP00000343034.7:p.Glu495= | |
| ENST00000372220.5:c.516G>A | ENSP00000361294.5:p.Glu172= | |
| ENST00000372228.9:c.1713G>A | ENSP00000361302.3:p.Glu571= | |
| ENST00000402686.8:c.1647G>A MANE Select | ENSP00000385797.4:p.Glu549= | |
| ENST00000676640.1:c.1647G>A | ENSP00000503281.1:p.Glu549= | |
| ENST00000676803.1:c.759+656G>A | ENSP00000503093.1:n.759+656G>A | |
| ENST00000676835.1:c.*862G>A | ENSP00000502911.1:n.*862G>A | |
| ENST00000677029.1:c.1191G>A | ENSP00000502936.1:p.Glu397= | |
| ENST00000677099.1:c.*1357G>A | ENSP00000504553.1:n.*1357G>A | |
| ENST00000677216.1:c.1296G>A | ENSP00000503772.1:p.Glu432= | |
| ENST00000677221.1:n.672G>A | ||
| ENST00000677295.1:c.*1024G>A | ENSP00000504346.1:n.*1024G>A | |
| ENST00000677444.1:c.1592G>A | ||
| ENST00000677586.1:n.1065+656G>A | ||
| ENST00000677626.1:c.1296G>A | ENSP00000503552.1:p.Glu432= | |
| ENST00000677677.1:n.1607G>A | ||
| ENST00000677853.1:c.*655G>A | ENSP00000503488.1:n.*655G>A | |
| ENST00000678202.1:n.806G>A | ||
| ENST00000678264.1:c.*1024G>A | ENSP00000503157.1:n.*1024G>A | |
| ENST00000678303.1:c.1557G>A | ENSP00000503696.1:p.Glu519= | |
| ENST00000678366.1:c.*1896G>A | ENSP00000504353.1:n.*1896G>A | |
| ENST00000678546.1:c.*1592G>A | ENSP00000503062.1:n.*1592G>A | |
| ENST00000678548.1:c.*1719G>A | ENSP00000503934.1:n.*1719G>A | |
| ENST00000678626.1:n.1483G>A | ||
| ENST00000678733.1:c.728G>A | ||
| ENST00000678739.1:c.*1968G>A | ENSP00000503806.1:n.*1968G>A | |
| ENST00000678833.1:c.*1399G>A | ENSP00000503893.1:n.*1399G>A | |
| ENST00000679023.1:c.1485G>A | ENSP00000503718.1:p.Glu495= | |
| ENST00000679076.1:c.1266G>A | ||
| ENST00000679111.1:c.*403G>A | ENSP00000504257.1:n.*403G>A | |
| ENST00000679189.1:c.1296G>A | ENSP00000503356.1:p.Glu432= | |
| ENST00000341012.11:c.1485G>A | ENSP00000343034.7:p.Glu495= | |
| ENST00000372220.4:c.510G>A | ENSP00000361294.4:p.Glu170= | |
| ENST00000372228.7:c.1713G>A | ENSP00000361302.3:p.Glu571= | |
| ENST00000402686.7:c.1647G>A | ENSP00000385797.3:p.Glu549= | |
| ENST00000404875.6:c.1296G>A | ENSP00000384531.2:p.Glu432= | |
| ENST00000423007.5:c.1647G>A | ENSP00000404119.1:p.Glu549= | |
| ENST00000467848.1:n.351G>A | ||
| ENST00000485278.5:n.2197G>A | ||
| NM_001077365.1:c.1647G>A | NP_001070833.1:p.Glu549= | |
| NM_001077366.1:c.1485G>A | NP_001070834.1:p.Glu495= | |
| NM_001136113.1:c.1647G>A | NP_001129585.1:p.Glu549= | |
| NM_001136114.1:c.1296G>A | NP_001129586.1:p.Glu432= | |
| NM_007171.3:c.1713G>A | NP_009102.3:p.Glu571= | |
| XM_005272156.1:c.1713G>A | XP_005272213.1:p.Glu571= | |
| XM_005272158.1:c.1551G>A | XP_005272215.1:p.Glu517= | |
| XM_005272159.1:c.1362G>A | XP_005272216.1:p.Glu454= | |
| XM_005272162.1:c.516G>A | XP_005272219.1:p.Glu172= | |
| XM_006716932.1:c.1362G>A | XP_006716995.1:p.Glu454= | |
| XM_011518140.1:c.1566G>A | XP_011516442.1:p.Glu522= | |
| XM_011518141.1:c.1500G>A | XP_011516443.1:p.Glu500= | |
| XM_011518142.1:c.1404G>A | XP_011516444.1:p.Glu468= | |
| XM_011518143.1:c.1398G>A | XP_011516445.1:p.Glu466= | |
| XM_011518145.1:c.1257G>A | XP_011516447.1:p.Glu419= | |
| XM_011518147.1:c.585G>A | XP_011516449.1:p.Glu195= | |
| XR_929703.1:n.1889G>A | ||
| NM_001353193.1:c.1713G>A | NP_001340122.1:p.Glu571= | |
| NM_001353194.1:c.1485G>A | NP_001340123.1:p.Glu495= | |
| NM_001353195.1:c.1296G>A | NP_001340124.1:p.Glu432= | |
| NM_001353196.1:c.1557G>A | NP_001340125.1:p.Glu519= | |
| NM_001353197.1:c.1551G>A | NP_001340126.1:p.Glu517= | |
| NM_001353198.1:c.1551G>A | NP_001340127.1:p.Glu517= | |
| NM_001353199.1:c.1362G>A | NP_001340128.1:p.Glu454= | |
| NM_001353200.1:c.1191G>A | NP_001340129.1:p.Glu397= | |
| NR_148391.1:n.1697G>A | ||
| NR_148392.1:n.1915G>A | ||
| NR_148393.1:n.1836G>A | ||
| NR_148394.1:n.1590G>A | ||
| NR_148395.1:n.1988G>A | ||
| NR_148396.1:n.1622G>A | ||
| NR_148397.1:n.1747G>A | ||
| NR_148398.1:n.1702G>A | ||
| NR_148399.1:n.2228G>A | ||
| NR_148400.1:n.1827G>A | ||
| XM_005272162.3:c.516G>A | XP_005272219.1:p.Glu172= | |
| XM_006716932.2:c.1362G>A | XP_006716995.1:p.Glu454= | |
| XM_011518140.2:c.1566G>A | XP_011516442.1:p.Glu522= | |
| XM_011518141.2:c.1500G>A | XP_011516443.1:p.Glu500= | |
| XM_011518142.2:c.1404G>A | XP_011516444.1:p.Glu468= | |
| XM_011518143.2:c.1398G>A | XP_011516445.1:p.Glu466= | |
| XM_011518145.2:c.1257G>A | XP_011516447.1:p.Glu419= | |
| XM_017014205.2:c.516G>A | XP_016869694.1:p.Glu172= | |
| XM_024447380.1:c.516G>A | XP_024303148.1:p.Glu172= | |
| XM_024447381.1:c.822G>A | XP_024303149.1:p.Glu274= | |
| XM_024447382.1:c.516G>A | XP_024303150.1:p.Glu172= | |
| XR_001746160.2:n.1817G>A | ||
| XR_001746162.2:n.2022G>A | ||
| XR_001746164.1:n.1739G>A | ||
| XR_001746166.2:n.2034G>A | ||
| NM_001077365.2:c.1647G>A MANE Select | NP_001070833.1:p.Glu549= | |
| NM_001077366.2:c.1485G>A | NP_001070834.1:p.Glu495= | |
| NM_001136113.2:c.1647G>A | NP_001129585.1:p.Glu549= | |
| NM_001136114.2:c.1296G>A | NP_001129586.1:p.Glu432= | |
| NM_001353193.2:c.1713G>A | NP_001340122.2:p.Glu571= | |
| NM_001353194.2:c.1485G>A | NP_001340123.1:p.Glu495= | |
| NM_001353195.2:c.1296G>A | NP_001340124.1:p.Glu432= | |
| NM_001353196.2:c.1557G>A | NP_001340125.1:p.Glu519= | |
| NM_001353197.2:c.1551G>A | NP_001340126.2:p.Glu517= | |
| NM_001353198.2:c.1551G>A | NP_001340127.2:p.Glu517= | |
| NM_001353199.2:c.1362G>A | NP_001340128.2:p.Glu454= | |
| NM_001353200.2:c.1191G>A | NP_001340129.1:p.Glu397= | |
| NM_001374689.1:c.1635G>A | NP_001361618.1:p.Glu545= | |
| NM_001374690.1:c.1428G>A | NP_001361619.1:p.Glu476= | |
| NM_001374691.1:c.1296G>A | NP_001361620.1:p.Glu432= | |
| NM_001374692.1:c.1296G>A | NP_001361621.1:p.Glu432= | |
| NM_001374693.1:c.1296G>A | NP_001361622.1:p.Glu432= | |
| NM_001374695.1:c.1257G>A | NP_001361624.1:p.Glu419= | |
| NM_007171.4:c.1713G>A | NP_009102.4:p.Glu571= | |
| NR_148391.2:n.1681G>A | ||
| NR_148392.2:n.1899G>A | ||
| NR_148393.2:n.1820G>A | ||
| NR_148394.2:n.1574G>A | ||
| NR_148395.2:n.1972G>A | ||
| NR_148396.2:n.1606G>A | ||
| NR_148397.2:n.1731G>A | ||
| NR_148398.2:n.1686G>A | ||
| NR_148399.2:n.2212G>A | ||
| NR_148400.2:n.1811G>A |