Linked Data
ClinVar Variation Id:
3246
dbSNP Id:
rs119462986
ExAC:
9:134396738 G / C
gnomAD v2:
9-134396738-G-C
gnomAD v4:
9-131521351-G-C
PubMed:
PMID:16575835
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131521351G>C , CM000671.2:g.131521351G>C | GRCh38 |
| NC_000009.11:g.134396738G>C , CM000671.1:g.134396738G>C | GRCh37 |
| NC_000009.10:g.133386559G>C | NCBI36 |
| NG_008896.1:g.23450G>C | |
| NG_008896.2:g.23450G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.1542G>C | ENSP00000343034.7:p.Gln514His | |
| ENST00000404875.7:n.2244G>C | ||
| ENST00000423007.6:c.1761G>C | ENSP00000404119.2:p.Gln587His | |
| ENST00000677295.2:c.*2048G>C | ENSP00000504346.2:n.*2048G>C | |
| ENST00000678264.2:c.*1887G>C | ENSP00000503157.2:n.*1887G>C | |
| ENST00000682070.1:n.2169G>C | ||
| ENST00000682813.1:n.2108G>C | ||
| ENST00000683392.1:n.4451G>C | ||
| ENST00000683712.1:n.2109G>C | ||
| ENST00000683900.1:n.3604G>C | ||
| ENST00000684062.1:n.2370G>C | ||
| ENST00000684579.1:n.3550G>C | ||
| ENST00000684679.1:n.931G>C | ||
| ENST00000341012.12:c.1542G>C | ENSP00000343034.7:p.Gln514His | |
| ENST00000372220.5:c.573G>C | ENSP00000361294.5:p.Gln191His | |
| ENST00000372228.9:c.1770G>C | ENSP00000361302.3:p.Gln590His | |
| ENST00000402686.8:c.1704G>C MANE Select | ENSP00000385797.4:p.Gln568His | |
| ENST00000676640.1:c.1704G>C | ENSP00000503281.1:p.Gln568His | |
| ENST00000676803.1:c.765G>C | ENSP00000503093.1:p.Gln255His | |
| ENST00000676835.1:c.*919G>C | ENSP00000502911.1:n.*919G>C | |
| ENST00000677029.1:c.1248G>C | ENSP00000502936.1:p.Gln416His | |
| ENST00000677099.1:c.*1414G>C | ENSP00000504553.1:n.*1414G>C | |
| ENST00000677216.1:c.1353G>C | ENSP00000503772.1:p.Gln451His | |
| ENST00000677221.1:n.729G>C | ||
| ENST00000677295.1:c.*1081G>C | ENSP00000504346.1:n.*1081G>C | |
| ENST00000677444.1:c.1649G>C | ||
| ENST00000677586.1:n.1071G>C | ||
| ENST00000677626.1:c.1353G>C | ENSP00000503552.1:p.Gln451His | |
| ENST00000677853.1:c.*712G>C | ENSP00000503488.1:n.*712G>C | |
| ENST00000678202.1:n.863G>C | ||
| ENST00000678264.1:c.*1081G>C | ENSP00000503157.1:n.*1081G>C | |
| ENST00000678303.1:c.1614G>C | ENSP00000503696.1:p.Gln538His | |
| ENST00000678366.1:c.*1953G>C | ENSP00000504353.1:n.*1953G>C | |
| ENST00000678546.1:c.*1649G>C | ENSP00000503062.1:n.*1649G>C | |
| ENST00000678548.1:c.*1776G>C | ENSP00000503934.1:n.*1776G>C | |
| ENST00000678626.1:n.1540G>C | ||
| ENST00000678739.1:c.*2025G>C | ENSP00000503806.1:n.*2025G>C | |
| ENST00000678833.1:c.*1456G>C | ENSP00000503893.1:n.*1456G>C | |
| ENST00000679023.1:c.1542G>C | ENSP00000503718.1:p.Gln514His | |
| ENST00000679076.1:c.1323G>C | ||
| ENST00000679111.1:c.*460G>C | ENSP00000504257.1:n.*460G>C | |
| ENST00000679189.1:c.1353G>C | ENSP00000503356.1:p.Gln451His | |
| ENST00000341012.11:c.1542G>C | ENSP00000343034.7:p.Gln514His | |
| ENST00000372220.4:c.567G>C | ENSP00000361294.4:p.Gln189His | |
| ENST00000372228.7:c.1770G>C | ENSP00000361302.3:p.Gln590His | |
| ENST00000402686.7:c.1704G>C | ENSP00000385797.3:p.Gln568His | |
| ENST00000404875.6:c.1353G>C | ENSP00000384531.2:p.Gln451His | |
| ENST00000423007.5:c.1704G>C | ENSP00000404119.1:p.Gln568His | |
| ENST00000467848.1:n.408G>C | ||
| ENST00000485278.5:n.2254G>C | ||
| ENST00000494883.1:n.247G>C | ||
| NM_001077365.1:c.1704G>C | NP_001070833.1:p.Gln568His | |
| NM_001077366.1:c.1542G>C | NP_001070834.1:p.Gln514His | |
| NM_001136113.1:c.1704G>C | NP_001129585.1:p.Gln568His | |
| NM_001136114.1:c.1353G>C | NP_001129586.1:p.Gln451His | |
| NM_007171.3:c.1770G>C | NP_009102.3:p.Gln590His | |
| XM_005272156.1:c.1770G>C | XP_005272213.1:p.Gln590His | |
| XM_005272158.1:c.1608G>C | XP_005272215.1:p.Gln536His | |
| XM_005272159.1:c.1419G>C | XP_005272216.1:p.Gln473His | |
| XM_005272162.1:c.573G>C | XP_005272219.1:p.Gln191His | |
| XM_006716932.1:c.1419G>C | XP_006716995.1:p.Gln473His | |
| XM_011518140.1:c.1623G>C | XP_011516442.1:p.Gln541His | |
| XM_011518141.1:c.1557G>C | XP_011516443.1:p.Gln519His | |
| XM_011518142.1:c.1461G>C | XP_011516444.1:p.Gln487His | |
| XM_011518143.1:c.1455G>C | XP_011516445.1:p.Gln485His | |
| XM_011518145.1:c.1314G>C | XP_011516447.1:p.Gln438His | |
| XM_011518147.1:c.642G>C | XP_011516449.1:p.Gln214His | |
| XR_929703.1:n.1946G>C | ||
| NM_001353193.1:c.1770G>C | NP_001340122.1:p.Gln590His | |
| NM_001353194.1:c.1542G>C | NP_001340123.1:p.Gln514His | |
| NM_001353195.1:c.1353G>C | NP_001340124.1:p.Gln451His | |
| NM_001353196.1:c.1614G>C | NP_001340125.1:p.Gln538His | |
| NM_001353197.1:c.1608G>C | NP_001340126.1:p.Gln536His | |
| NM_001353198.1:c.1608G>C | NP_001340127.1:p.Gln536His | |
| NM_001353199.1:c.1419G>C | NP_001340128.1:p.Gln473His | |
| NM_001353200.1:c.1248G>C | NP_001340129.1:p.Gln416His | |
| NR_148391.1:n.1754G>C | ||
| NR_148392.1:n.1972G>C | ||
| NR_148393.1:n.1893G>C | ||
| NR_148394.1:n.1647G>C | ||
| NR_148395.1:n.2045G>C | ||
| NR_148396.1:n.1679G>C | ||
| NR_148397.1:n.1804G>C | ||
| NR_148398.1:n.1759G>C | ||
| NR_148399.1:n.2285G>C | ||
| NR_148400.1:n.1884G>C | ||
| XM_005272162.3:c.573G>C | XP_005272219.1:p.Gln191His | |
| XM_006716932.2:c.1419G>C | XP_006716995.1:p.Gln473His | |
| XM_011518140.2:c.1623G>C | XP_011516442.1:p.Gln541His | |
| XM_011518141.2:c.1557G>C | XP_011516443.1:p.Gln519His | |
| XM_011518142.2:c.1461G>C | XP_011516444.1:p.Gln487His | |
| XM_011518143.2:c.1455G>C | XP_011516445.1:p.Gln485His | |
| XM_011518145.2:c.1314G>C | XP_011516447.1:p.Gln438His | |
| XM_017014205.2:c.573G>C | XP_016869694.1:p.Gln191His | |
| XM_024447380.1:c.573G>C | XP_024303148.1:p.Gln191His | |
| XM_024447381.1:c.879G>C | XP_024303149.1:p.Gln293His | |
| XM_024447382.1:c.573G>C | XP_024303150.1:p.Gln191His | |
| XR_001746160.2:n.1874G>C | ||
| XR_001746162.2:n.2079G>C | ||
| XR_001746164.1:n.1796G>C | ||
| XR_001746166.2:n.2091G>C | ||
| NM_001077365.2:c.1704G>C MANE Select | NP_001070833.1:p.Gln568His | |
| NM_001077366.2:c.1542G>C | NP_001070834.1:p.Gln514His | |
| NM_001136113.2:c.1704G>C | NP_001129585.1:p.Gln568His | |
| NM_001136114.2:c.1353G>C | NP_001129586.1:p.Gln451His | |
| NM_001353193.2:c.1770G>C | NP_001340122.2:p.Gln590His | |
| NM_001353194.2:c.1542G>C | NP_001340123.1:p.Gln514His | |
| NM_001353195.2:c.1353G>C | NP_001340124.1:p.Gln451His | |
| NM_001353196.2:c.1614G>C | NP_001340125.1:p.Gln538His | |
| NM_001353197.2:c.1608G>C | NP_001340126.2:p.Gln536His | |
| NM_001353198.2:c.1608G>C | NP_001340127.2:p.Gln536His | |
| NM_001353199.2:c.1419G>C | NP_001340128.2:p.Gln473His | |
| NM_001353200.2:c.1248G>C | NP_001340129.1:p.Gln416His | |
| NM_001374689.1:c.1692G>C | NP_001361618.1:p.Gln564His | |
| NM_001374690.1:c.1485G>C | NP_001361619.1:p.Gln495His | |
| NM_001374691.1:c.1353G>C | NP_001361620.1:p.Gln451His | |
| NM_001374692.1:c.1353G>C | NP_001361621.1:p.Gln451His | |
| NM_001374693.1:c.1353G>C | NP_001361622.1:p.Gln451His | |
| NM_001374695.1:c.1314G>C | NP_001361624.1:p.Gln438His | |
| NM_007171.4:c.1770G>C | NP_009102.4:p.Gln590His | |
| NR_148391.2:n.1738G>C | ||
| NR_148392.2:n.1956G>C | ||
| NR_148393.2:n.1877G>C | ||
| NR_148394.2:n.1631G>C | ||
| NR_148395.2:n.2029G>C | ||
| NR_148396.2:n.1663G>C | ||
| NR_148397.2:n.1788G>C | ||
| NR_148398.2:n.1743G>C | ||
| NR_148399.2:n.2269G>C | ||
| NR_148400.2:n.1868G>C |