Linked Data
dbSNP Id:
rs763164453
ExAC:
9:134398386 T / G
gnomAD v2:
9-134398386-T-G
gnomAD v4:
9-131522999-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131522999T>G , CM000671.2:g.131522999T>G | GRCh38 |
| NC_000009.11:g.134398386T>G , CM000671.1:g.134398386T>G | GRCh37 |
| NC_000009.10:g.133388207T>G | NCBI36 |
| NG_008896.1:g.25098T>G | |
| NG_008896.2:g.25098T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1909T>G | ENSP00000343034.7:p.Ser637Ala | |
| ENST00000404875.7:n.2611T>G | ||
| ENST00000423007.6:c.2128T>G | ENSP00000404119.2:p.Ser710Ala | |
| ENST00000677295.2:c.*2415T>G | ENSP00000504346.2:n.*2415T>G | |
| ENST00000678264.2:c.*2254T>G | ENSP00000503157.2:n.*2254T>G | |
| ENST00000682070.1:n.2381T>G | ||
| ENST00000682639.1:c.68T>G | ||
| ENST00000682813.1:n.2468T>G | ||
| ENST00000683231.1:c.68T>G | ||
| ENST00000683392.1:n.4663T>G | ||
| ENST00000683712.1:n.2476T>G | ||
| ENST00000683900.1:n.3971T>G | ||
| ENST00000684062.1:n.2737T>G | ||
| ENST00000684399.1:c.68T>G | ||
| ENST00000684579.1:n.3917T>G | ||
| ENST00000341012.12:c.1909T>G | ENSP00000343034.7:p.Ser637Ala | |
| ENST00000372220.5:c.940T>G | ENSP00000361294.5:p.Ser314Ala | |
| ENST00000372228.9:c.2137T>G | ENSP00000361302.3:p.Ser713Ala | |
| ENST00000402686.8:c.2071T>G MANE Select | ENSP00000385797.4:p.Ser691Ala | |
| ENST00000676640.1:c.2071T>G | ENSP00000503281.1:p.Ser691Ala | |
| ENST00000676803.1:c.1132T>G | ENSP00000503093.1:p.Ser378Ala | |
| ENST00000676835.1:c.*1286T>G | ENSP00000502911.1:n.*1286T>G | |
| ENST00000677029.1:c.1615T>G | ENSP00000502936.1:p.Ser539Ala | |
| ENST00000677099.1:c.*1781T>G | ENSP00000504553.1:n.*1781T>G | |
| ENST00000677216.1:c.1720T>G | ENSP00000503772.1:p.Ser574Ala | |
| ENST00000677221.1:n.1096T>G | ||
| ENST00000677295.1:c.*1293T>G | ENSP00000504346.1:n.*1293T>G | |
| ENST00000677444.1:c.2016T>G | ||
| ENST00000677586.1:n.1438T>G | ||
| ENST00000677626.1:c.1720T>G | ENSP00000503552.1:p.Ser574Ala | |
| ENST00000677853.1:c.*1079T>G | ENSP00000503488.1:n.*1079T>G | |
| ENST00000678264.1:c.*1448T>G | ENSP00000503157.1:n.*1448T>G | |
| ENST00000678303.1:c.1981T>G | ENSP00000503696.1:p.Ser661Ala | |
| ENST00000678366.1:c.*2320T>G | ENSP00000504353.1:n.*2320T>G | |
| ENST00000678546.1:c.*2016T>G | ENSP00000503062.1:n.*2016T>G | |
| ENST00000678548.1:c.*2210T>G | ENSP00000503934.1:n.*2210T>G | |
| ENST00000678626.1:n.1907T>G | ||
| ENST00000678739.1:c.*2237T>G | ENSP00000503806.1:n.*2237T>G | |
| ENST00000678833.1:c.*1823T>G | ENSP00000503893.1:n.*1823T>G | |
| ENST00000679023.1:c.1909T>G | ENSP00000503718.1:p.Ser637Ala | |
| ENST00000679076.1:c.1690T>G | ||
| ENST00000679111.1:c.*827T>G | ENSP00000504257.1:n.*827T>G | |
| ENST00000679189.1:c.1720T>G | ENSP00000503356.1:p.Ser574Ala | |
| ENST00000341012.11:c.1909T>G | ENSP00000343034.7:p.Ser637Ala | |
| ENST00000372220.4:c.934T>G | ENSP00000361294.4:p.Ser312Ala | |
| ENST00000372228.7:c.2137T>G | ENSP00000361302.3:p.Ser713Ala | |
| ENST00000402686.7:c.2071T>G | ENSP00000385797.3:p.Ser691Ala | |
| ENST00000404875.6:c.1720T>G | ENSP00000384531.2:p.Ser574Ala | |
| ENST00000423007.5:c.2071T>G | ENSP00000404119.1:p.Ser691Ala | |
| ENST00000485278.5:n.2621T>G | ||
| NM_001077365.1:c.2071T>G | NP_001070833.1:p.Ser691Ala | |
| NM_001077366.1:c.1909T>G | NP_001070834.1:p.Ser637Ala | |
| NM_001136113.1:c.2071T>G | NP_001129585.1:p.Ser691Ala | |
| NM_001136114.1:c.1720T>G | NP_001129586.1:p.Ser574Ala | |
| NM_007171.3:c.2137T>G | NP_009102.3:p.Ser713Ala | |
| XM_005272156.1:c.2137T>G | XP_005272213.1:p.Ser713Ala | |
| XM_005272158.1:c.1975T>G | XP_005272215.1:p.Ser659Ala | |
| XM_005272159.1:c.1786T>G | XP_005272216.1:p.Ser596Ala | |
| XM_005272162.1:c.940T>G | XP_005272219.1:p.Ser314Ala | |
| XM_006716932.1:c.1786T>G | XP_006716995.1:p.Ser596Ala | |
| XM_011518140.1:c.1990T>G | XP_011516442.1:p.Ser664Ala | |
| XM_011518141.1:c.1924T>G | XP_011516443.1:p.Ser642Ala | |
| XM_011518142.1:c.1828T>G | XP_011516444.1:p.Ser610Ala | |
| XM_011518143.1:c.1822T>G | XP_011516445.1:p.Ser608Ala | |
| XM_011518145.1:c.1681T>G | XP_011516447.1:p.Ser561Ala | |
| XM_011518147.1:c.1009T>G | XP_011516449.1:p.Ser337Ala | |
| XR_929703.1:n.2313T>G | ||
| NM_001353193.1:c.2137T>G | NP_001340122.1:p.Ser713Ala | |
| NM_001353194.1:c.1909T>G | NP_001340123.1:p.Ser637Ala | |
| NM_001353195.1:c.1720T>G | NP_001340124.1:p.Ser574Ala | |
| NM_001353196.1:c.1981T>G | NP_001340125.1:p.Ser661Ala | |
| NM_001353197.1:c.1975T>G | NP_001340126.1:p.Ser659Ala | |
| NM_001353198.1:c.1975T>G | NP_001340127.1:p.Ser659Ala | |
| NM_001353199.1:c.1786T>G | NP_001340128.1:p.Ser596Ala | |
| NM_001353200.1:c.1615T>G | NP_001340129.1:p.Ser539Ala | |
| NR_148391.1:n.2121T>G | ||
| NR_148392.1:n.2339T>G | ||
| NR_148393.1:n.2260T>G | ||
| NR_148394.1:n.2014T>G | ||
| NR_148395.1:n.2412T>G | ||
| NR_148396.1:n.2046T>G | ||
| NR_148397.1:n.2171T>G | ||
| NR_148398.1:n.2126T>G | ||
| NR_148399.1:n.2652T>G | ||
| NR_148400.1:n.2251T>G | ||
| XM_005272162.3:c.940T>G | XP_005272219.1:p.Ser314Ala | |
| XM_006716932.2:c.1786T>G | XP_006716995.1:p.Ser596Ala | |
| XM_011518140.2:c.1990T>G | XP_011516442.1:p.Ser664Ala | |
| XM_011518141.2:c.1924T>G | XP_011516443.1:p.Ser642Ala | |
| XM_011518142.2:c.1828T>G | XP_011516444.1:p.Ser610Ala | |
| XM_011518143.2:c.1822T>G | XP_011516445.1:p.Ser608Ala | |
| XM_011518145.2:c.1681T>G | XP_011516447.1:p.Ser561Ala | |
| XM_017014205.2:c.940T>G | XP_016869694.1:p.Ser314Ala | |
| XM_024447380.1:c.940T>G | XP_024303148.1:p.Ser314Ala | |
| XM_024447381.1:c.1246T>G | XP_024303149.1:p.Ser416Ala | |
| XM_024447382.1:c.940T>G | XP_024303150.1:p.Ser314Ala | |
| XR_001746160.2:n.2241T>G | ||
| XR_001746162.2:n.2446T>G | ||
| XR_001746164.1:n.2163T>G | ||
| XR_001746166.2:n.2458T>G | ||
| NM_001077365.2:c.2071T>G MANE Select | NP_001070833.1:p.Ser691Ala | |
| NM_001077366.2:c.1909T>G | NP_001070834.1:p.Ser637Ala | |
| NM_001136113.2:c.2071T>G | NP_001129585.1:p.Ser691Ala | |
| NM_001136114.2:c.1720T>G | NP_001129586.1:p.Ser574Ala | |
| NM_001353193.2:c.2137T>G | NP_001340122.2:p.Ser713Ala | |
| NM_001353194.2:c.1909T>G | NP_001340123.1:p.Ser637Ala | |
| NM_001353195.2:c.1720T>G | NP_001340124.1:p.Ser574Ala | |
| NM_001353196.2:c.1981T>G | NP_001340125.1:p.Ser661Ala | |
| NM_001353197.2:c.1975T>G | NP_001340126.2:p.Ser659Ala | |
| NM_001353198.2:c.1975T>G | NP_001340127.2:p.Ser659Ala | |
| NM_001353199.2:c.1786T>G | NP_001340128.2:p.Ser596Ala | |
| NM_001353200.2:c.1615T>G | NP_001340129.1:p.Ser539Ala | |
| NM_001374689.1:c.2059T>G | NP_001361618.1:p.Ser687Ala | |
| NM_001374690.1:c.1852T>G | NP_001361619.1:p.Ser618Ala | |
| NM_001374691.1:c.1720T>G | NP_001361620.1:p.Ser574Ala | |
| NM_001374692.1:c.1720T>G | NP_001361621.1:p.Ser574Ala | |
| NM_001374693.1:c.1720T>G | NP_001361622.1:p.Ser574Ala | |
| NM_001374695.1:c.1681T>G | NP_001361624.1:p.Ser561Ala | |
| NM_007171.4:c.2137T>G | NP_009102.4:p.Ser713Ala | |
| NR_148391.2:n.2105T>G | ||
| NR_148392.2:n.2323T>G | ||
| NR_148393.2:n.2244T>G | ||
| NR_148394.2:n.1998T>G | ||
| NR_148395.2:n.2396T>G | ||
| NR_148396.2:n.2030T>G | ||
| NR_148397.2:n.2155T>G | ||
| NR_148398.2:n.2110T>G | ||
| NR_148399.2:n.2636T>G | ||
| NR_148400.2:n.2235T>G |