Linked Data
ClinVar Variation Id:
1011985
ClinVar RCV Id:
RCV001309872
dbSNP Id:
rs147143094
gnomAD v2:
9-134398493-G-C
gnomAD v4:
9-131523106-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131523106G>C , CM000671.2:g.131523106G>C | GRCh38 |
| NC_000009.11:g.134398493G>C , CM000671.1:g.134398493G>C | GRCh37 |
| NC_000009.10:g.133388314G>C | NCBI36 |
| NG_008896.1:g.25205G>C | |
| NG_008896.2:g.25205G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.2016G>C | ENSP00000343034.7:p.Ter672Tyr | |
| ENST00000404875.7:n.2718G>C | ||
| ENST00000423007.6:c.2235G>C | ENSP00000404119.2:p.Ter745Tyr | |
| ENST00000677295.2:c.*2522G>C | ENSP00000504346.2:n.*2522G>C | |
| ENST00000678264.2:c.*2361G>C | ENSP00000503157.2:n.*2361G>C | |
| ENST00000682070.1:n.2488G>C | ||
| ENST00000682639.1:c.175G>C | ||
| ENST00000682813.1:n.2575G>C | ||
| ENST00000683231.1:c.175G>C | ||
| ENST00000683392.1:n.4770G>C | ||
| ENST00000683712.1:n.2583G>C | ||
| ENST00000683900.1:n.4078G>C | ||
| ENST00000684062.1:n.2844G>C | ||
| ENST00000684399.1:c.175G>C | ||
| ENST00000684579.1:n.4024G>C | ||
| ENST00000341012.12:c.2016G>C | ENSP00000343034.7:p.Ter672Tyr | |
| ENST00000372220.5:c.1047G>C | ENSP00000361294.5:p.Ter349Tyr | |
| ENST00000372228.9:c.2244G>C | ENSP00000361302.3:p.Ter748Tyr | |
| ENST00000402686.8:c.2178G>C MANE Select | ENSP00000385797.4:p.Ter726Tyr | |
| ENST00000676640.1:c.2178G>C | ENSP00000503281.1:p.Ter726Tyr | |
| ENST00000676803.1:c.1239G>C | ENSP00000503093.1:p.Ter413Tyr | |
| ENST00000676835.1:c.*1393G>C | ENSP00000502911.1:n.*1393G>C | |
| ENST00000677029.1:c.1722G>C | ENSP00000502936.1:p.Ter574Tyr | |
| ENST00000677099.1:c.*1888G>C | ENSP00000504553.1:n.*1888G>C | |
| ENST00000677216.1:c.1827G>C | ENSP00000503772.1:p.Ter609Tyr | |
| ENST00000677295.1:c.*1400G>C | ENSP00000504346.1:n.*1400G>C | |
| ENST00000677444.1:c.2123G>C | ||
| ENST00000677586.1:n.1545G>C | ||
| ENST00000677626.1:c.1827G>C | ENSP00000503552.1:p.Ter609Tyr | |
| ENST00000677853.1:c.*1186G>C | ENSP00000503488.1:n.*1186G>C | |
| ENST00000678264.1:c.*1555G>C | ENSP00000503157.1:n.*1555G>C | |
| ENST00000678303.1:c.2088G>C | ENSP00000503696.1:p.Ter696Tyr | |
| ENST00000678366.1:c.*2427G>C | ENSP00000504353.1:n.*2427G>C | |
| ENST00000678546.1:c.*2123G>C | ENSP00000503062.1:n.*2123G>C | |
| ENST00000678548.1:c.*2317G>C | ENSP00000503934.1:n.*2317G>C | |
| ENST00000678626.1:n.2014G>C | ||
| ENST00000678739.1:c.*2344G>C | ENSP00000503806.1:n.*2344G>C | |
| ENST00000678833.1:c.*1930G>C | ENSP00000503893.1:n.*1930G>C | |
| ENST00000679023.1:c.2016G>C | ENSP00000503718.1:p.Ter672Tyr | |
| ENST00000679076.1:c.1797G>C | ||
| ENST00000679111.1:c.*934G>C | ENSP00000504257.1:n.*934G>C | |
| ENST00000679189.1:c.1827G>C | ENSP00000503356.1:p.Ter609Tyr | |
| ENST00000341012.11:c.2016G>C | ENSP00000343034.7:p.Ter672Tyr | |
| ENST00000372220.4:c.1041G>C | ENSP00000361294.4:p.Ter347Tyr | |
| ENST00000372228.7:c.2244G>C | ENSP00000361302.3:p.Ter748Tyr | |
| ENST00000402686.7:c.2178G>C | ENSP00000385797.3:p.Ter726Tyr | |
| ENST00000404875.6:c.1827G>C | ENSP00000384531.2:p.Ter609Tyr | |
| ENST00000423007.5:c.2178G>C | ENSP00000404119.1:p.Ter726Tyr | |
| ENST00000485278.5:n.2728G>C | ||
| NM_001077365.1:c.2178G>C | NP_001070833.1:p.Ter726Tyr | |
| NM_001077366.1:c.2016G>C | NP_001070834.1:p.Ter672Tyr | |
| NM_001136113.1:c.2178G>C | NP_001129585.1:p.Ter726Tyr | |
| NM_001136114.1:c.1827G>C | NP_001129586.1:p.Ter609Tyr | |
| NM_007171.3:c.2244G>C | NP_009102.3:p.Ter748Tyr | |
| XM_005272156.1:c.2244G>C | XP_005272213.1:p.Ter748Tyr | |
| XM_005272158.1:c.2082G>C | XP_005272215.1:p.Ter694Tyr | |
| XM_005272159.1:c.1893G>C | XP_005272216.1:p.Ter631Tyr | |
| XM_005272162.1:c.1047G>C | XP_005272219.1:p.Ter349Tyr | |
| XM_006716932.1:c.1893G>C | XP_006716995.1:p.Ter631Tyr | |
| XM_011518140.1:c.2097G>C | XP_011516442.1:p.Ter699Tyr | |
| XM_011518141.1:c.2031G>C | XP_011516443.1:p.Ter677Tyr | |
| XM_011518142.1:c.1935G>C | XP_011516444.1:p.Ter645Tyr | |
| XM_011518143.1:c.1929G>C | XP_011516445.1:p.Ter643Tyr | |
| XM_011518145.1:c.1788G>C | XP_011516447.1:p.Ter596Tyr | |
| XM_011518147.1:c.1116G>C | XP_011516449.1:p.Ter372Tyr | |
| XR_929703.1:n.2420G>C | ||
| NM_001353193.1:c.2244G>C | NP_001340122.1:p.Ter748Tyr | |
| NM_001353194.1:c.2016G>C | NP_001340123.1:p.Ter672Tyr | |
| NM_001353195.1:c.1827G>C | NP_001340124.1:p.Ter609Tyr | |
| NM_001353196.1:c.2088G>C | NP_001340125.1:p.Ter696Tyr | |
| NM_001353197.1:c.2082G>C | NP_001340126.1:p.Ter694Tyr | |
| NM_001353198.1:c.2082G>C | NP_001340127.1:p.Ter694Tyr | |
| NM_001353199.1:c.1893G>C | NP_001340128.1:p.Ter631Tyr | |
| NM_001353200.1:c.1722G>C | NP_001340129.1:p.Ter574Tyr | |
| NR_148391.1:n.2228G>C | ||
| NR_148392.1:n.2446G>C | ||
| NR_148393.1:n.2367G>C | ||
| NR_148394.1:n.2121G>C | ||
| NR_148395.1:n.2519G>C | ||
| NR_148396.1:n.2153G>C | ||
| NR_148397.1:n.2278G>C | ||
| NR_148398.1:n.2233G>C | ||
| NR_148399.1:n.2759G>C | ||
| NR_148400.1:n.2358G>C | ||
| XM_005272162.3:c.1047G>C | XP_005272219.1:p.Ter349Tyr | |
| XM_006716932.2:c.1893G>C | XP_006716995.1:p.Ter631Tyr | |
| XM_011518140.2:c.2097G>C | XP_011516442.1:p.Ter699Tyr | |
| XM_011518141.2:c.2031G>C | XP_011516443.1:p.Ter677Tyr | |
| XM_011518142.2:c.1935G>C | XP_011516444.1:p.Ter645Tyr | |
| XM_011518143.2:c.1929G>C | XP_011516445.1:p.Ter643Tyr | |
| XM_011518145.2:c.1788G>C | XP_011516447.1:p.Ter596Tyr | |
| XM_017014205.2:c.1047G>C | XP_016869694.1:p.Ter349Tyr | |
| XM_024447380.1:c.1047G>C | XP_024303148.1:p.Ter349Tyr | |
| XM_024447381.1:c.1353G>C | XP_024303149.1:p.Ter451Tyr | |
| XM_024447382.1:c.1047G>C | XP_024303150.1:p.Ter349Tyr | |
| XR_001746160.2:n.2348G>C | ||
| XR_001746162.2:n.2553G>C | ||
| XR_001746164.1:n.2270G>C | ||
| XR_001746166.2:n.2565G>C | ||
| NM_001077365.2:c.2178G>C MANE Select | NP_001070833.1:p.Ter726Tyr | |
| NM_001077366.2:c.2016G>C | NP_001070834.1:p.Ter672Tyr | |
| NM_001136113.2:c.2178G>C | NP_001129585.1:p.Ter726Tyr | |
| NM_001136114.2:c.1827G>C | NP_001129586.1:p.Ter609Tyr | |
| NM_001353193.2:c.2244G>C | NP_001340122.2:p.Ter748Tyr | |
| NM_001353194.2:c.2016G>C | NP_001340123.1:p.Ter672Tyr | |
| NM_001353195.2:c.1827G>C | NP_001340124.1:p.Ter609Tyr | |
| NM_001353196.2:c.2088G>C | NP_001340125.1:p.Ter696Tyr | |
| NM_001353197.2:c.2082G>C | NP_001340126.2:p.Ter694Tyr | |
| NM_001353198.2:c.2082G>C | NP_001340127.2:p.Ter694Tyr | |
| NM_001353199.2:c.1893G>C | NP_001340128.2:p.Ter631Tyr | |
| NM_001353200.2:c.1722G>C | NP_001340129.1:p.Ter574Tyr | |
| NM_001374689.1:c.2166G>C | NP_001361618.1:p.Ter722Tyr | |
| NM_001374690.1:c.1959G>C | NP_001361619.1:p.Ter653Tyr | |
| NM_001374691.1:c.1827G>C | NP_001361620.1:p.Ter609Tyr | |
| NM_001374692.1:c.1827G>C | NP_001361621.1:p.Ter609Tyr | |
| NM_001374693.1:c.1827G>C | NP_001361622.1:p.Ter609Tyr | |
| NM_001374695.1:c.1788G>C | NP_001361624.1:p.Ter596Tyr | |
| NM_007171.4:c.2244G>C | NP_009102.4:p.Ter748Tyr | |
| NR_148391.2:n.2212G>C | ||
| NR_148392.2:n.2430G>C | ||
| NR_148393.2:n.2351G>C | ||
| NR_148394.2:n.2105G>C | ||
| NR_148395.2:n.2503G>C | ||
| NR_148396.2:n.2137G>C | ||
| NR_148397.2:n.2262G>C | ||
| NR_148398.2:n.2217G>C | ||
| NR_148399.2:n.2743G>C | ||
| NR_148400.2:n.2342G>C |