Linked Data
ClinVar Variation Id:
211945
dbSNP Id:
rs535544133
ExAC:
9:134398374 G / A
gnomAD v2:
9-134398374-G-A
gnomAD v3:
9-131522987-G-A
gnomAD v4:
9-131522987-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131522987G>A , CM000671.2:g.131522987G>A | GRCh38 |
| NC_000009.11:g.134398374G>A , CM000671.1:g.134398374G>A | GRCh37 |
| NC_000009.10:g.133388195G>A | NCBI36 |
| NG_008896.1:g.25086G>A | |
| NG_008896.2:g.25086G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1897G>A | ENSP00000343034.7:p.Ala633Thr | |
| ENST00000404875.7:n.2599G>A | ||
| ENST00000423007.6:c.2116G>A | ENSP00000404119.2:p.Ala706Thr | |
| ENST00000677295.2:c.*2403G>A | ENSP00000504346.2:n.*2403G>A | |
| ENST00000678264.2:c.*2242G>A | ENSP00000503157.2:n.*2242G>A | |
| ENST00000682070.1:n.2369G>A | ||
| ENST00000682639.1:c.56G>A | ||
| ENST00000682813.1:n.2456G>A | ||
| ENST00000683231.1:c.56G>A | ||
| ENST00000683392.1:n.4651G>A | ||
| ENST00000683712.1:n.2464G>A | ||
| ENST00000683900.1:n.3959G>A | ||
| ENST00000684062.1:n.2725G>A | ||
| ENST00000684399.1:c.56G>A | ||
| ENST00000684579.1:n.3905G>A | ||
| ENST00000341012.12:c.1897G>A | ENSP00000343034.7:p.Ala633Thr | |
| ENST00000372220.5:c.928G>A | ENSP00000361294.5:p.Ala310Thr | |
| ENST00000372228.9:c.2125G>A | ENSP00000361302.3:p.Ala709Thr | |
| ENST00000402686.8:c.2059G>A MANE Select | ENSP00000385797.4:p.Ala687Thr | |
| ENST00000676640.1:c.2059G>A | ENSP00000503281.1:p.Ala687Thr | |
| ENST00000676803.1:c.1120G>A | ENSP00000503093.1:p.Ala374Thr | |
| ENST00000676835.1:c.*1274G>A | ENSP00000502911.1:n.*1274G>A | |
| ENST00000677029.1:c.1603G>A | ENSP00000502936.1:p.Ala535Thr | |
| ENST00000677099.1:c.*1769G>A | ENSP00000504553.1:n.*1769G>A | |
| ENST00000677216.1:c.1708G>A | ENSP00000503772.1:p.Ala570Thr | |
| ENST00000677221.1:n.1084G>A | ||
| ENST00000677295.1:c.*1281G>A | ENSP00000504346.1:n.*1281G>A | |
| ENST00000677444.1:c.2004G>A | ||
| ENST00000677586.1:n.1426G>A | ||
| ENST00000677626.1:c.1708G>A | ENSP00000503552.1:p.Ala570Thr | |
| ENST00000677853.1:c.*1067G>A | ENSP00000503488.1:n.*1067G>A | |
| ENST00000678264.1:c.*1436G>A | ENSP00000503157.1:n.*1436G>A | |
| ENST00000678303.1:c.1969G>A | ENSP00000503696.1:p.Ala657Thr | |
| ENST00000678366.1:c.*2308G>A | ENSP00000504353.1:n.*2308G>A | |
| ENST00000678546.1:c.*2004G>A | ENSP00000503062.1:n.*2004G>A | |
| ENST00000678548.1:c.*2198G>A | ENSP00000503934.1:n.*2198G>A | |
| ENST00000678626.1:n.1895G>A | ||
| ENST00000678739.1:c.*2225G>A | ENSP00000503806.1:n.*2225G>A | |
| ENST00000678833.1:c.*1811G>A | ENSP00000503893.1:n.*1811G>A | |
| ENST00000679023.1:c.1897G>A | ENSP00000503718.1:p.Ala633Thr | |
| ENST00000679076.1:c.1678G>A | ||
| ENST00000679111.1:c.*815G>A | ENSP00000504257.1:n.*815G>A | |
| ENST00000679189.1:c.1708G>A | ENSP00000503356.1:p.Ala570Thr | |
| ENST00000341012.11:c.1897G>A | ENSP00000343034.7:p.Ala633Thr | |
| ENST00000372220.4:c.922G>A | ENSP00000361294.4:p.Ala308Thr | |
| ENST00000372228.7:c.2125G>A | ENSP00000361302.3:p.Ala709Thr | |
| ENST00000402686.7:c.2059G>A | ENSP00000385797.3:p.Ala687Thr | |
| ENST00000404875.6:c.1708G>A | ENSP00000384531.2:p.Ala570Thr | |
| ENST00000423007.5:c.2059G>A | ENSP00000404119.1:p.Ala687Thr | |
| ENST00000485278.5:n.2609G>A | ||
| NM_001077365.1:c.2059G>A | NP_001070833.1:p.Ala687Thr | |
| NM_001077366.1:c.1897G>A | NP_001070834.1:p.Ala633Thr | |
| NM_001136113.1:c.2059G>A | NP_001129585.1:p.Ala687Thr | |
| NM_001136114.1:c.1708G>A | NP_001129586.1:p.Ala570Thr | |
| NM_007171.3:c.2125G>A | NP_009102.3:p.Ala709Thr | |
| XM_005272156.1:c.2125G>A | XP_005272213.1:p.Ala709Thr | |
| XM_005272158.1:c.1963G>A | XP_005272215.1:p.Ala655Thr | |
| XM_005272159.1:c.1774G>A | XP_005272216.1:p.Ala592Thr | |
| XM_005272162.1:c.928G>A | XP_005272219.1:p.Ala310Thr | |
| XM_006716932.1:c.1774G>A | XP_006716995.1:p.Ala592Thr | |
| XM_011518140.1:c.1978G>A | XP_011516442.1:p.Ala660Thr | |
| XM_011518141.1:c.1912G>A | XP_011516443.1:p.Ala638Thr | |
| XM_011518142.1:c.1816G>A | XP_011516444.1:p.Ala606Thr | |
| XM_011518143.1:c.1810G>A | XP_011516445.1:p.Ala604Thr | |
| XM_011518145.1:c.1669G>A | XP_011516447.1:p.Ala557Thr | |
| XM_011518147.1:c.997G>A | XP_011516449.1:p.Ala333Thr | |
| XR_929703.1:n.2301G>A | ||
| NM_001353193.1:c.2125G>A | NP_001340122.1:p.Ala709Thr | |
| NM_001353194.1:c.1897G>A | NP_001340123.1:p.Ala633Thr | |
| NM_001353195.1:c.1708G>A | NP_001340124.1:p.Ala570Thr | |
| NM_001353196.1:c.1969G>A | NP_001340125.1:p.Ala657Thr | |
| NM_001353197.1:c.1963G>A | NP_001340126.1:p.Ala655Thr | |
| NM_001353198.1:c.1963G>A | NP_001340127.1:p.Ala655Thr | |
| NM_001353199.1:c.1774G>A | NP_001340128.1:p.Ala592Thr | |
| NM_001353200.1:c.1603G>A | NP_001340129.1:p.Ala535Thr | |
| NR_148391.1:n.2109G>A | ||
| NR_148392.1:n.2327G>A | ||
| NR_148393.1:n.2248G>A | ||
| NR_148394.1:n.2002G>A | ||
| NR_148395.1:n.2400G>A | ||
| NR_148396.1:n.2034G>A | ||
| NR_148397.1:n.2159G>A | ||
| NR_148398.1:n.2114G>A | ||
| NR_148399.1:n.2640G>A | ||
| NR_148400.1:n.2239G>A | ||
| XM_005272162.3:c.928G>A | XP_005272219.1:p.Ala310Thr | |
| XM_006716932.2:c.1774G>A | XP_006716995.1:p.Ala592Thr | |
| XM_011518140.2:c.1978G>A | XP_011516442.1:p.Ala660Thr | |
| XM_011518141.2:c.1912G>A | XP_011516443.1:p.Ala638Thr | |
| XM_011518142.2:c.1816G>A | XP_011516444.1:p.Ala606Thr | |
| XM_011518143.2:c.1810G>A | XP_011516445.1:p.Ala604Thr | |
| XM_011518145.2:c.1669G>A | XP_011516447.1:p.Ala557Thr | |
| XM_017014205.2:c.928G>A | XP_016869694.1:p.Ala310Thr | |
| XM_024447380.1:c.928G>A | XP_024303148.1:p.Ala310Thr | |
| XM_024447381.1:c.1234G>A | XP_024303149.1:p.Ala412Thr | |
| XM_024447382.1:c.928G>A | XP_024303150.1:p.Ala310Thr | |
| XR_001746160.2:n.2229G>A | ||
| XR_001746162.2:n.2434G>A | ||
| XR_001746164.1:n.2151G>A | ||
| XR_001746166.2:n.2446G>A | ||
| NM_001077365.2:c.2059G>A MANE Select | NP_001070833.1:p.Ala687Thr | |
| NM_001077366.2:c.1897G>A | NP_001070834.1:p.Ala633Thr | |
| NM_001136113.2:c.2059G>A | NP_001129585.1:p.Ala687Thr | |
| NM_001136114.2:c.1708G>A | NP_001129586.1:p.Ala570Thr | |
| NM_001353193.2:c.2125G>A | NP_001340122.2:p.Ala709Thr | |
| NM_001353194.2:c.1897G>A | NP_001340123.1:p.Ala633Thr | |
| NM_001353195.2:c.1708G>A | NP_001340124.1:p.Ala570Thr | |
| NM_001353196.2:c.1969G>A | NP_001340125.1:p.Ala657Thr | |
| NM_001353197.2:c.1963G>A | NP_001340126.2:p.Ala655Thr | |
| NM_001353198.2:c.1963G>A | NP_001340127.2:p.Ala655Thr | |
| NM_001353199.2:c.1774G>A | NP_001340128.2:p.Ala592Thr | |
| NM_001353200.2:c.1603G>A | NP_001340129.1:p.Ala535Thr | |
| NM_001374689.1:c.2047G>A | NP_001361618.1:p.Ala683Thr | |
| NM_001374690.1:c.1840G>A | NP_001361619.1:p.Ala614Thr | |
| NM_001374691.1:c.1708G>A | NP_001361620.1:p.Ala570Thr | |
| NM_001374692.1:c.1708G>A | NP_001361621.1:p.Ala570Thr | |
| NM_001374693.1:c.1708G>A | NP_001361622.1:p.Ala570Thr | |
| NM_001374695.1:c.1669G>A | NP_001361624.1:p.Ala557Thr | |
| NM_007171.4:c.2125G>A | NP_009102.4:p.Ala709Thr | |
| NR_148391.2:n.2093G>A | ||
| NR_148392.2:n.2311G>A | ||
| NR_148393.2:n.2232G>A | ||
| NR_148394.2:n.1986G>A | ||
| NR_148395.2:n.2384G>A | ||
| NR_148396.2:n.2018G>A | ||
| NR_148397.2:n.2143G>A | ||
| NR_148398.2:n.2098G>A | ||
| NR_148399.2:n.2624G>A | ||
| NR_148400.2:n.2223G>A |