Linked Data
ClinVar Variation Id:
498220
dbSNP Id:
rs199682341
ExAC:
9:134395480 C / T
gnomAD v2:
9-134395480-C-T
gnomAD v3:
9-131520093-C-T
gnomAD v4:
9-131520093-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131520093C>T , CM000671.2:g.131520093C>T | GRCh38 |
| NC_000009.11:g.134395480C>T , CM000671.1:g.134395480C>T | GRCh37 |
| NC_000009.10:g.133385301C>T | NCBI36 |
| NG_008896.1:g.22192C>T | |
| NG_008896.2:g.22192C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1436C>T | ENSP00000343034.7:p.Ala479Val | |
| ENST00000404875.7:n.2138C>T | ||
| ENST00000423007.6:c.1655C>T | ENSP00000404119.2:p.Ala552Val | |
| ENST00000677295.2:c.*1942C>T | ENSP00000504346.2:n.*1942C>T | |
| ENST00000678264.2:c.*1781C>T | ENSP00000503157.2:n.*1781C>T | |
| ENST00000682070.1:n.2063C>T | ||
| ENST00000682813.1:n.2002C>T | ||
| ENST00000683392.1:n.4345C>T | ||
| ENST00000683712.1:n.2003C>T | ||
| ENST00000683900.1:n.3498C>T | ||
| ENST00000684062.1:n.2264C>T | ||
| ENST00000684579.1:n.3444C>T | ||
| ENST00000684679.1:n.825C>T | ||
| ENST00000341012.12:c.1436C>T | ENSP00000343034.7:p.Ala479Val | |
| ENST00000372220.5:c.467C>T | ENSP00000361294.5:p.Ala156Val | |
| ENST00000372228.9:c.1664C>T | ENSP00000361302.3:p.Ala555Val | |
| ENST00000402686.8:c.1598C>T MANE Select | ENSP00000385797.4:p.Ala533Val | |
| ENST00000676640.1:c.1598C>T | ENSP00000503281.1:p.Ala533Val | |
| ENST00000676803.1:c.759+607C>T | ENSP00000503093.1:n.759+607C>T | |
| ENST00000676835.1:c.*813C>T | ENSP00000502911.1:n.*813C>T | |
| ENST00000677029.1:c.1142C>T | ENSP00000502936.1:p.Ala381Val | |
| ENST00000677099.1:c.*1308C>T | ENSP00000504553.1:n.*1308C>T | |
| ENST00000677216.1:c.1247C>T | ENSP00000503772.1:p.Ala416Val | |
| ENST00000677221.1:n.623C>T | ||
| ENST00000677295.1:c.*975C>T | ENSP00000504346.1:n.*975C>T | |
| ENST00000677444.1:c.1543C>T | ||
| ENST00000677586.1:n.1065+607C>T | ||
| ENST00000677626.1:c.1247C>T | ENSP00000503552.1:p.Ala416Val | |
| ENST00000677677.1:n.1558C>T | ||
| ENST00000677853.1:c.*606C>T | ENSP00000503488.1:n.*606C>T | |
| ENST00000678202.1:n.757C>T | ||
| ENST00000678264.1:c.*975C>T | ENSP00000503157.1:n.*975C>T | |
| ENST00000678303.1:c.1508C>T | ENSP00000503696.1:p.Ala503Val | |
| ENST00000678366.1:c.*1847C>T | ENSP00000504353.1:n.*1847C>T | |
| ENST00000678546.1:c.*1543C>T | ENSP00000503062.1:n.*1543C>T | |
| ENST00000678548.1:c.*1670C>T | ENSP00000503934.1:n.*1670C>T | |
| ENST00000678626.1:n.1434C>T | ||
| ENST00000678733.1:c.679C>T | ||
| ENST00000678739.1:c.*1919C>T | ENSP00000503806.1:n.*1919C>T | |
| ENST00000678833.1:c.*1350C>T | ENSP00000503893.1:n.*1350C>T | |
| ENST00000679023.1:c.1436C>T | ENSP00000503718.1:p.Ala479Val | |
| ENST00000679076.1:c.1217C>T | ||
| ENST00000679111.1:c.*354C>T | ENSP00000504257.1:n.*354C>T | |
| ENST00000679189.1:c.1247C>T | ENSP00000503356.1:p.Ala416Val | |
| ENST00000341012.11:c.1436C>T | ENSP00000343034.7:p.Ala479Val | |
| ENST00000372220.4:c.461C>T | ENSP00000361294.4:p.Ala154Val | |
| ENST00000372228.7:c.1664C>T | ENSP00000361302.3:p.Ala555Val | |
| ENST00000402686.7:c.1598C>T | ENSP00000385797.3:p.Ala533Val | |
| ENST00000404875.6:c.1247C>T | ENSP00000384531.2:p.Ala416Val | |
| ENST00000423007.5:c.1598C>T | ENSP00000404119.1:p.Ala533Val | |
| ENST00000467848.1:n.302C>T | ||
| ENST00000485278.5:n.2148C>T | ||
| NM_001077365.1:c.1598C>T | NP_001070833.1:p.Ala533Val | |
| NM_001077366.1:c.1436C>T | NP_001070834.1:p.Ala479Val | |
| NM_001136113.1:c.1598C>T | NP_001129585.1:p.Ala533Val | |
| NM_001136114.1:c.1247C>T | NP_001129586.1:p.Ala416Val | |
| NM_007171.3:c.1664C>T | NP_009102.3:p.Ala555Val | |
| XM_005272156.1:c.1664C>T | XP_005272213.1:p.Ala555Val | |
| XM_005272158.1:c.1502C>T | XP_005272215.1:p.Ala501Val | |
| XM_005272159.1:c.1313C>T | XP_005272216.1:p.Ala438Val | |
| XM_005272162.1:c.467C>T | XP_005272219.1:p.Ala156Val | |
| XM_006716932.1:c.1313C>T | XP_006716995.1:p.Ala438Val | |
| XM_011518140.1:c.1517C>T | XP_011516442.1:p.Ala506Val | |
| XM_011518141.1:c.1451C>T | XP_011516443.1:p.Ala484Val | |
| XM_011518142.1:c.1355C>T | XP_011516444.1:p.Ala452Val | |
| XM_011518143.1:c.1349C>T | XP_011516445.1:p.Ala450Val | |
| XM_011518145.1:c.1208C>T | XP_011516447.1:p.Ala403Val | |
| XM_011518147.1:c.536C>T | XP_011516449.1:p.Ala179Val | |
| XR_929703.1:n.1840C>T | ||
| NM_001353193.1:c.1664C>T | NP_001340122.1:p.Ala555Val | |
| NM_001353194.1:c.1436C>T | NP_001340123.1:p.Ala479Val | |
| NM_001353195.1:c.1247C>T | NP_001340124.1:p.Ala416Val | |
| NM_001353196.1:c.1508C>T | NP_001340125.1:p.Ala503Val | |
| NM_001353197.1:c.1502C>T | NP_001340126.1:p.Ala501Val | |
| NM_001353198.1:c.1502C>T | NP_001340127.1:p.Ala501Val | |
| NM_001353199.1:c.1313C>T | NP_001340128.1:p.Ala438Val | |
| NM_001353200.1:c.1142C>T | NP_001340129.1:p.Ala381Val | |
| NR_148391.1:n.1648C>T | ||
| NR_148392.1:n.1866C>T | ||
| NR_148393.1:n.1787C>T | ||
| NR_148394.1:n.1541C>T | ||
| NR_148395.1:n.1939C>T | ||
| NR_148396.1:n.1573C>T | ||
| NR_148397.1:n.1698C>T | ||
| NR_148398.1:n.1653C>T | ||
| NR_148399.1:n.2179C>T | ||
| NR_148400.1:n.1778C>T | ||
| XM_005272162.3:c.467C>T | XP_005272219.1:p.Ala156Val | |
| XM_006716932.2:c.1313C>T | XP_006716995.1:p.Ala438Val | |
| XM_011518140.2:c.1517C>T | XP_011516442.1:p.Ala506Val | |
| XM_011518141.2:c.1451C>T | XP_011516443.1:p.Ala484Val | |
| XM_011518142.2:c.1355C>T | XP_011516444.1:p.Ala452Val | |
| XM_011518143.2:c.1349C>T | XP_011516445.1:p.Ala450Val | |
| XM_011518145.2:c.1208C>T | XP_011516447.1:p.Ala403Val | |
| XM_017014205.2:c.467C>T | XP_016869694.1:p.Ala156Val | |
| XM_024447380.1:c.467C>T | XP_024303148.1:p.Ala156Val | |
| XM_024447381.1:c.773C>T | XP_024303149.1:p.Ala258Val | |
| XM_024447382.1:c.467C>T | XP_024303150.1:p.Ala156Val | |
| XR_001746160.2:n.1768C>T | ||
| XR_001746162.2:n.1973C>T | ||
| XR_001746164.1:n.1690C>T | ||
| XR_001746166.2:n.1985C>T | ||
| NM_001077365.2:c.1598C>T MANE Select | NP_001070833.1:p.Ala533Val | |
| NM_001077366.2:c.1436C>T | NP_001070834.1:p.Ala479Val | |
| NM_001136113.2:c.1598C>T | NP_001129585.1:p.Ala533Val | |
| NM_001136114.2:c.1247C>T | NP_001129586.1:p.Ala416Val | |
| NM_001353193.2:c.1664C>T | NP_001340122.2:p.Ala555Val | |
| NM_001353194.2:c.1436C>T | NP_001340123.1:p.Ala479Val | |
| NM_001353195.2:c.1247C>T | NP_001340124.1:p.Ala416Val | |
| NM_001353196.2:c.1508C>T | NP_001340125.1:p.Ala503Val | |
| NM_001353197.2:c.1502C>T | NP_001340126.2:p.Ala501Val | |
| NM_001353198.2:c.1502C>T | NP_001340127.2:p.Ala501Val | |
| NM_001353199.2:c.1313C>T | NP_001340128.2:p.Ala438Val | |
| NM_001353200.2:c.1142C>T | NP_001340129.1:p.Ala381Val | |
| NM_001374689.1:c.1586C>T | NP_001361618.1:p.Ala529Val | |
| NM_001374690.1:c.1379C>T | NP_001361619.1:p.Ala460Val | |
| NM_001374691.1:c.1247C>T | NP_001361620.1:p.Ala416Val | |
| NM_001374692.1:c.1247C>T | NP_001361621.1:p.Ala416Val | |
| NM_001374693.1:c.1247C>T | NP_001361622.1:p.Ala416Val | |
| NM_001374695.1:c.1208C>T | NP_001361624.1:p.Ala403Val | |
| NM_007171.4:c.1664C>T | NP_009102.4:p.Ala555Val | |
| NR_148391.2:n.1632C>T | ||
| NR_148392.2:n.1850C>T | ||
| NR_148393.2:n.1771C>T | ||
| NR_148394.2:n.1525C>T | ||
| NR_148395.2:n.1923C>T | ||
| NR_148396.2:n.1557C>T | ||
| NR_148397.2:n.1682C>T | ||
| NR_148398.2:n.1637C>T | ||
| NR_148399.2:n.2163C>T | ||
| NR_148400.2:n.1762C>T |