Linked Data
dbSNP Id:
rs748716685
ExAC:
9:134398335 A / T
gnomAD v2:
9-134398335-A-T
gnomAD v4:
9-131522948-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131522948A>T , CM000671.2:g.131522948A>T | GRCh38 |
| NC_000009.11:g.134398335A>T , CM000671.1:g.134398335A>T | GRCh37 |
| NC_000009.10:g.133388156A>T | NCBI36 |
| NG_008896.1:g.25047A>T | |
| NG_008896.2:g.25047A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1858A>T | ENSP00000343034.7:p.Ser620Cys | |
| ENST00000404875.7:n.2560A>T | ||
| ENST00000423007.6:c.2077A>T | ENSP00000404119.2:p.Ser693Cys | |
| ENST00000677295.2:c.*2364A>T | ENSP00000504346.2:n.*2364A>T | |
| ENST00000678264.2:c.*2203A>T | ENSP00000503157.2:n.*2203A>T | |
| ENST00000682070.1:n.2330A>T | ||
| ENST00000682639.1:c.17A>T | ||
| ENST00000682813.1:n.2417A>T | ||
| ENST00000683231.1:c.17A>T | ||
| ENST00000683392.1:n.4612A>T | ||
| ENST00000683712.1:n.2425A>T | ||
| ENST00000683900.1:n.3920A>T | ||
| ENST00000684062.1:n.2686A>T | ||
| ENST00000684399.1:c.17A>T | ||
| ENST00000684579.1:n.3866A>T | ||
| ENST00000341012.12:c.1858A>T | ENSP00000343034.7:p.Ser620Cys | |
| ENST00000372220.5:c.889A>T | ENSP00000361294.5:p.Ser297Cys | |
| ENST00000372228.9:c.2086A>T | ENSP00000361302.3:p.Ser696Cys | |
| ENST00000402686.8:c.2020A>T MANE Select | ENSP00000385797.4:p.Ser674Cys | |
| ENST00000676640.1:c.2020A>T | ENSP00000503281.1:p.Ser674Cys | |
| ENST00000676803.1:c.1081A>T | ENSP00000503093.1:p.Ser361Cys | |
| ENST00000676835.1:c.*1235A>T | ENSP00000502911.1:n.*1235A>T | |
| ENST00000677029.1:c.1564A>T | ENSP00000502936.1:p.Ser522Cys | |
| ENST00000677099.1:c.*1730A>T | ENSP00000504553.1:n.*1730A>T | |
| ENST00000677216.1:c.1669A>T | ENSP00000503772.1:p.Ser557Cys | |
| ENST00000677221.1:n.1045A>T | ||
| ENST00000677295.1:c.*1242A>T | ENSP00000504346.1:n.*1242A>T | |
| ENST00000677444.1:c.1965A>T | ||
| ENST00000677586.1:n.1387A>T | ||
| ENST00000677626.1:c.1669A>T | ENSP00000503552.1:p.Ser557Cys | |
| ENST00000677853.1:c.*1028A>T | ENSP00000503488.1:n.*1028A>T | |
| ENST00000678264.1:c.*1397A>T | ENSP00000503157.1:n.*1397A>T | |
| ENST00000678303.1:c.1930A>T | ENSP00000503696.1:p.Ser644Cys | |
| ENST00000678366.1:c.*2269A>T | ENSP00000504353.1:n.*2269A>T | |
| ENST00000678546.1:c.*1965A>T | ENSP00000503062.1:n.*1965A>T | |
| ENST00000678548.1:c.*2159A>T | ENSP00000503934.1:n.*2159A>T | |
| ENST00000678626.1:n.1856A>T | ||
| ENST00000678739.1:c.*2186A>T | ENSP00000503806.1:n.*2186A>T | |
| ENST00000678833.1:c.*1772A>T | ENSP00000503893.1:n.*1772A>T | |
| ENST00000679023.1:c.1858A>T | ENSP00000503718.1:p.Ser620Cys | |
| ENST00000679076.1:c.1639A>T | ||
| ENST00000679111.1:c.*776A>T | ENSP00000504257.1:n.*776A>T | |
| ENST00000679189.1:c.1669A>T | ENSP00000503356.1:p.Ser557Cys | |
| ENST00000341012.11:c.1858A>T | ENSP00000343034.7:p.Ser620Cys | |
| ENST00000372220.4:c.883A>T | ENSP00000361294.4:p.Ser295Cys | |
| ENST00000372228.7:c.2086A>T | ENSP00000361302.3:p.Ser696Cys | |
| ENST00000402686.7:c.2020A>T | ENSP00000385797.3:p.Ser674Cys | |
| ENST00000404875.6:c.1669A>T | ENSP00000384531.2:p.Ser557Cys | |
| ENST00000423007.5:c.2020A>T | ENSP00000404119.1:p.Ser674Cys | |
| ENST00000485278.5:n.2570A>T | ||
| NM_001077365.1:c.2020A>T | NP_001070833.1:p.Ser674Cys | |
| NM_001077366.1:c.1858A>T | NP_001070834.1:p.Ser620Cys | |
| NM_001136113.1:c.2020A>T | NP_001129585.1:p.Ser674Cys | |
| NM_001136114.1:c.1669A>T | NP_001129586.1:p.Ser557Cys | |
| NM_007171.3:c.2086A>T | NP_009102.3:p.Ser696Cys | |
| XM_005272156.1:c.2086A>T | XP_005272213.1:p.Ser696Cys | |
| XM_005272158.1:c.1924A>T | XP_005272215.1:p.Ser642Cys | |
| XM_005272159.1:c.1735A>T | XP_005272216.1:p.Ser579Cys | |
| XM_005272162.1:c.889A>T | XP_005272219.1:p.Ser297Cys | |
| XM_006716932.1:c.1735A>T | XP_006716995.1:p.Ser579Cys | |
| XM_011518140.1:c.1939A>T | XP_011516442.1:p.Ser647Cys | |
| XM_011518141.1:c.1873A>T | XP_011516443.1:p.Ser625Cys | |
| XM_011518142.1:c.1777A>T | XP_011516444.1:p.Ser593Cys | |
| XM_011518143.1:c.1771A>T | XP_011516445.1:p.Ser591Cys | |
| XM_011518145.1:c.1630A>T | XP_011516447.1:p.Ser544Cys | |
| XM_011518147.1:c.958A>T | XP_011516449.1:p.Ser320Cys | |
| XR_929703.1:n.2262A>T | ||
| NM_001353193.1:c.2086A>T | NP_001340122.1:p.Ser696Cys | |
| NM_001353194.1:c.1858A>T | NP_001340123.1:p.Ser620Cys | |
| NM_001353195.1:c.1669A>T | NP_001340124.1:p.Ser557Cys | |
| NM_001353196.1:c.1930A>T | NP_001340125.1:p.Ser644Cys | |
| NM_001353197.1:c.1924A>T | NP_001340126.1:p.Ser642Cys | |
| NM_001353198.1:c.1924A>T | NP_001340127.1:p.Ser642Cys | |
| NM_001353199.1:c.1735A>T | NP_001340128.1:p.Ser579Cys | |
| NM_001353200.1:c.1564A>T | NP_001340129.1:p.Ser522Cys | |
| NR_148391.1:n.2070A>T | ||
| NR_148392.1:n.2288A>T | ||
| NR_148393.1:n.2209A>T | ||
| NR_148394.1:n.1963A>T | ||
| NR_148395.1:n.2361A>T | ||
| NR_148396.1:n.1995A>T | ||
| NR_148397.1:n.2120A>T | ||
| NR_148398.1:n.2075A>T | ||
| NR_148399.1:n.2601A>T | ||
| NR_148400.1:n.2200A>T | ||
| XM_005272162.3:c.889A>T | XP_005272219.1:p.Ser297Cys | |
| XM_006716932.2:c.1735A>T | XP_006716995.1:p.Ser579Cys | |
| XM_011518140.2:c.1939A>T | XP_011516442.1:p.Ser647Cys | |
| XM_011518141.2:c.1873A>T | XP_011516443.1:p.Ser625Cys | |
| XM_011518142.2:c.1777A>T | XP_011516444.1:p.Ser593Cys | |
| XM_011518143.2:c.1771A>T | XP_011516445.1:p.Ser591Cys | |
| XM_011518145.2:c.1630A>T | XP_011516447.1:p.Ser544Cys | |
| XM_017014205.2:c.889A>T | XP_016869694.1:p.Ser297Cys | |
| XM_024447380.1:c.889A>T | XP_024303148.1:p.Ser297Cys | |
| XM_024447381.1:c.1195A>T | XP_024303149.1:p.Ser399Cys | |
| XM_024447382.1:c.889A>T | XP_024303150.1:p.Ser297Cys | |
| XR_001746160.2:n.2190A>T | ||
| XR_001746162.2:n.2395A>T | ||
| XR_001746164.1:n.2112A>T | ||
| XR_001746166.2:n.2407A>T | ||
| NM_001077365.2:c.2020A>T MANE Select | NP_001070833.1:p.Ser674Cys | |
| NM_001077366.2:c.1858A>T | NP_001070834.1:p.Ser620Cys | |
| NM_001136113.2:c.2020A>T | NP_001129585.1:p.Ser674Cys | |
| NM_001136114.2:c.1669A>T | NP_001129586.1:p.Ser557Cys | |
| NM_001353193.2:c.2086A>T | NP_001340122.2:p.Ser696Cys | |
| NM_001353194.2:c.1858A>T | NP_001340123.1:p.Ser620Cys | |
| NM_001353195.2:c.1669A>T | NP_001340124.1:p.Ser557Cys | |
| NM_001353196.2:c.1930A>T | NP_001340125.1:p.Ser644Cys | |
| NM_001353197.2:c.1924A>T | NP_001340126.2:p.Ser642Cys | |
| NM_001353198.2:c.1924A>T | NP_001340127.2:p.Ser642Cys | |
| NM_001353199.2:c.1735A>T | NP_001340128.2:p.Ser579Cys | |
| NM_001353200.2:c.1564A>T | NP_001340129.1:p.Ser522Cys | |
| NM_001374689.1:c.2008A>T | NP_001361618.1:p.Ser670Cys | |
| NM_001374690.1:c.1801A>T | NP_001361619.1:p.Ser601Cys | |
| NM_001374691.1:c.1669A>T | NP_001361620.1:p.Ser557Cys | |
| NM_001374692.1:c.1669A>T | NP_001361621.1:p.Ser557Cys | |
| NM_001374693.1:c.1669A>T | NP_001361622.1:p.Ser557Cys | |
| NM_001374695.1:c.1630A>T | NP_001361624.1:p.Ser544Cys | |
| NM_007171.4:c.2086A>T | NP_009102.4:p.Ser696Cys | |
| NR_148391.2:n.2054A>T | ||
| NR_148392.2:n.2272A>T | ||
| NR_148393.2:n.2193A>T | ||
| NR_148394.2:n.1947A>T | ||
| NR_148395.2:n.2345A>T | ||
| NR_148396.2:n.1979A>T | ||
| NR_148397.2:n.2104A>T | ||
| NR_148398.2:n.2059A>T | ||
| NR_148399.2:n.2585A>T | ||
| NR_148400.2:n.2184A>T |