Linked Data
ClinVar Variation Id:
260143
dbSNP Id:
rs144338642
ExAC:
9:134396761 T / C
gnomAD v2:
9-134396761-T-C
gnomAD v3:
9-131521374-T-C
gnomAD v4:
9-131521374-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131521374T>C , CM000671.2:g.131521374T>C | GRCh38 |
| NC_000009.11:g.134396761T>C , CM000671.1:g.134396761T>C | GRCh37 |
| NC_000009.10:g.133386582T>C | NCBI36 |
| NG_008896.1:g.23473T>C | |
| NG_008896.2:g.23473T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1565T>C | ENSP00000343034.7:p.Val522Ala | |
| ENST00000404875.7:n.2267T>C | ||
| ENST00000423007.6:c.1784T>C | ENSP00000404119.2:p.Val595Ala | |
| ENST00000677295.2:c.*2071T>C | ENSP00000504346.2:n.*2071T>C | |
| ENST00000678264.2:c.*1910T>C | ENSP00000503157.2:n.*1910T>C | |
| ENST00000682070.1:n.2192T>C | ||
| ENST00000682813.1:n.2131T>C | ||
| ENST00000683392.1:n.4474T>C | ||
| ENST00000683712.1:n.2132T>C | ||
| ENST00000683900.1:n.3627T>C | ||
| ENST00000684062.1:n.2393T>C | ||
| ENST00000684579.1:n.3573T>C | ||
| ENST00000684679.1:n.954T>C | ||
| ENST00000341012.12:c.1565T>C | ENSP00000343034.7:p.Val522Ala | |
| ENST00000372220.5:c.596T>C | ENSP00000361294.5:p.Val199Ala | |
| ENST00000372228.9:c.1793T>C | ENSP00000361302.3:p.Val598Ala | |
| ENST00000402686.8:c.1727T>C MANE Select | ENSP00000385797.4:p.Val576Ala | |
| ENST00000676640.1:c.1727T>C | ENSP00000503281.1:p.Val576Ala | |
| ENST00000676803.1:c.788T>C | ENSP00000503093.1:p.Val263Ala | |
| ENST00000676835.1:c.*942T>C | ENSP00000502911.1:n.*942T>C | |
| ENST00000677029.1:c.1271T>C | ENSP00000502936.1:p.Val424Ala | |
| ENST00000677099.1:c.*1437T>C | ENSP00000504553.1:n.*1437T>C | |
| ENST00000677216.1:c.1376T>C | ENSP00000503772.1:p.Val459Ala | |
| ENST00000677221.1:n.752T>C | ||
| ENST00000677295.1:c.*1104T>C | ENSP00000504346.1:n.*1104T>C | |
| ENST00000677444.1:c.1672T>C | ||
| ENST00000677586.1:n.1094T>C | ||
| ENST00000677626.1:c.1376T>C | ENSP00000503552.1:p.Val459Ala | |
| ENST00000677853.1:c.*735T>C | ENSP00000503488.1:n.*735T>C | |
| ENST00000678202.1:n.886T>C | ||
| ENST00000678264.1:c.*1104T>C | ENSP00000503157.1:n.*1104T>C | |
| ENST00000678303.1:c.1637T>C | ENSP00000503696.1:p.Val546Ala | |
| ENST00000678366.1:c.*1976T>C | ENSP00000504353.1:n.*1976T>C | |
| ENST00000678546.1:c.*1672T>C | ENSP00000503062.1:n.*1672T>C | |
| ENST00000678548.1:c.*1799T>C | ENSP00000503934.1:n.*1799T>C | |
| ENST00000678626.1:n.1563T>C | ||
| ENST00000678739.1:c.*2048T>C | ENSP00000503806.1:n.*2048T>C | |
| ENST00000678833.1:c.*1479T>C | ENSP00000503893.1:n.*1479T>C | |
| ENST00000679023.1:c.1565T>C | ENSP00000503718.1:p.Val522Ala | |
| ENST00000679076.1:c.1346T>C | ||
| ENST00000679111.1:c.*483T>C | ENSP00000504257.1:n.*483T>C | |
| ENST00000679189.1:c.1376T>C | ENSP00000503356.1:p.Val459Ala | |
| ENST00000341012.11:c.1565T>C | ENSP00000343034.7:p.Val522Ala | |
| ENST00000372220.4:c.590T>C | ENSP00000361294.4:p.Val197Ala | |
| ENST00000372228.7:c.1793T>C | ENSP00000361302.3:p.Val598Ala | |
| ENST00000402686.7:c.1727T>C | ENSP00000385797.3:p.Val576Ala | |
| ENST00000404875.6:c.1376T>C | ENSP00000384531.2:p.Val459Ala | |
| ENST00000423007.5:c.1727T>C | ENSP00000404119.1:p.Val576Ala | |
| ENST00000467848.1:n.431T>C | ||
| ENST00000485278.5:n.2277T>C | ||
| ENST00000494883.1:n.270T>C | ||
| NM_001077365.1:c.1727T>C | NP_001070833.1:p.Val576Ala | |
| NM_001077366.1:c.1565T>C | NP_001070834.1:p.Val522Ala | |
| NM_001136113.1:c.1727T>C | NP_001129585.1:p.Val576Ala | |
| NM_001136114.1:c.1376T>C | NP_001129586.1:p.Val459Ala | |
| NM_007171.3:c.1793T>C | NP_009102.3:p.Val598Ala | |
| XM_005272156.1:c.1793T>C | XP_005272213.1:p.Val598Ala | |
| XM_005272158.1:c.1631T>C | XP_005272215.1:p.Val544Ala | |
| XM_005272159.1:c.1442T>C | XP_005272216.1:p.Val481Ala | |
| XM_005272162.1:c.596T>C | XP_005272219.1:p.Val199Ala | |
| XM_006716932.1:c.1442T>C | XP_006716995.1:p.Val481Ala | |
| XM_011518140.1:c.1646T>C | XP_011516442.1:p.Val549Ala | |
| XM_011518141.1:c.1580T>C | XP_011516443.1:p.Val527Ala | |
| XM_011518142.1:c.1484T>C | XP_011516444.1:p.Val495Ala | |
| XM_011518143.1:c.1478T>C | XP_011516445.1:p.Val493Ala | |
| XM_011518145.1:c.1337T>C | XP_011516447.1:p.Val446Ala | |
| XM_011518147.1:c.665T>C | XP_011516449.1:p.Val222Ala | |
| XR_929703.1:n.1969T>C | ||
| NM_001353193.1:c.1793T>C | NP_001340122.1:p.Val598Ala | |
| NM_001353194.1:c.1565T>C | NP_001340123.1:p.Val522Ala | |
| NM_001353195.1:c.1376T>C | NP_001340124.1:p.Val459Ala | |
| NM_001353196.1:c.1637T>C | NP_001340125.1:p.Val546Ala | |
| NM_001353197.1:c.1631T>C | NP_001340126.1:p.Val544Ala | |
| NM_001353198.1:c.1631T>C | NP_001340127.1:p.Val544Ala | |
| NM_001353199.1:c.1442T>C | NP_001340128.1:p.Val481Ala | |
| NM_001353200.1:c.1271T>C | NP_001340129.1:p.Val424Ala | |
| NR_148391.1:n.1777T>C | ||
| NR_148392.1:n.1995T>C | ||
| NR_148393.1:n.1916T>C | ||
| NR_148394.1:n.1670T>C | ||
| NR_148395.1:n.2068T>C | ||
| NR_148396.1:n.1702T>C | ||
| NR_148397.1:n.1827T>C | ||
| NR_148398.1:n.1782T>C | ||
| NR_148399.1:n.2308T>C | ||
| NR_148400.1:n.1907T>C | ||
| XM_005272162.3:c.596T>C | XP_005272219.1:p.Val199Ala | |
| XM_006716932.2:c.1442T>C | XP_006716995.1:p.Val481Ala | |
| XM_011518140.2:c.1646T>C | XP_011516442.1:p.Val549Ala | |
| XM_011518141.2:c.1580T>C | XP_011516443.1:p.Val527Ala | |
| XM_011518142.2:c.1484T>C | XP_011516444.1:p.Val495Ala | |
| XM_011518143.2:c.1478T>C | XP_011516445.1:p.Val493Ala | |
| XM_011518145.2:c.1337T>C | XP_011516447.1:p.Val446Ala | |
| XM_017014205.2:c.596T>C | XP_016869694.1:p.Val199Ala | |
| XM_024447380.1:c.596T>C | XP_024303148.1:p.Val199Ala | |
| XM_024447381.1:c.902T>C | XP_024303149.1:p.Val301Ala | |
| XM_024447382.1:c.596T>C | XP_024303150.1:p.Val199Ala | |
| XR_001746160.2:n.1897T>C | ||
| XR_001746162.2:n.2102T>C | ||
| XR_001746164.1:n.1819T>C | ||
| XR_001746166.2:n.2114T>C | ||
| NM_001077365.2:c.1727T>C MANE Select | NP_001070833.1:p.Val576Ala | |
| NM_001077366.2:c.1565T>C | NP_001070834.1:p.Val522Ala | |
| NM_001136113.2:c.1727T>C | NP_001129585.1:p.Val576Ala | |
| NM_001136114.2:c.1376T>C | NP_001129586.1:p.Val459Ala | |
| NM_001353193.2:c.1793T>C | NP_001340122.2:p.Val598Ala | |
| NM_001353194.2:c.1565T>C | NP_001340123.1:p.Val522Ala | |
| NM_001353195.2:c.1376T>C | NP_001340124.1:p.Val459Ala | |
| NM_001353196.2:c.1637T>C | NP_001340125.1:p.Val546Ala | |
| NM_001353197.2:c.1631T>C | NP_001340126.2:p.Val544Ala | |
| NM_001353198.2:c.1631T>C | NP_001340127.2:p.Val544Ala | |
| NM_001353199.2:c.1442T>C | NP_001340128.2:p.Val481Ala | |
| NM_001353200.2:c.1271T>C | NP_001340129.1:p.Val424Ala | |
| NM_001374689.1:c.1715T>C | NP_001361618.1:p.Val572Ala | |
| NM_001374690.1:c.1508T>C | NP_001361619.1:p.Val503Ala | |
| NM_001374691.1:c.1376T>C | NP_001361620.1:p.Val459Ala | |
| NM_001374692.1:c.1376T>C | NP_001361621.1:p.Val459Ala | |
| NM_001374693.1:c.1376T>C | NP_001361622.1:p.Val459Ala | |
| NM_001374695.1:c.1337T>C | NP_001361624.1:p.Val446Ala | |
| NM_007171.4:c.1793T>C | NP_009102.4:p.Val598Ala | |
| NR_148391.2:n.1761T>C | ||
| NR_148392.2:n.1979T>C | ||
| NR_148393.2:n.1900T>C | ||
| NR_148394.2:n.1654T>C | ||
| NR_148395.2:n.2052T>C | ||
| NR_148396.2:n.1686T>C | ||
| NR_148397.2:n.1811T>C | ||
| NR_148398.2:n.1766T>C | ||
| NR_148399.2:n.2292T>C | ||
| NR_148400.2:n.1891T>C |