UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.146018421C>A | CA29823658 | HJV | c.937G>T (p.Asp313Tyr) c.259G>T (p.Asp87Tyr) c.598G>T (p.Asp200Tyr) | |
| 1 | g.146018421C= | CA1198820960 | HJV | c.937G= (p.Asp313=) c.259G= (p.Asp87=) c.598G= (p.Asp200=) | |
| 1 | g.146018421C>G | CA29823662 | HJV | c.937G>C (p.Asp313His) c.259G>C (p.Asp87His) c.598G>C (p.Asp200His) | |
| 1 | g.146018421C>T | CA1053923 | HJV | c.937G>A (p.Asp313Asn) c.259G>A (p.Asp87Asn) c.598G>A (p.Asp200Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.146018422C>A | CA342135390 | HJV | c.936G>T (p.Gln312His) c.258G>T (p.Gln86His) c.597G>T (p.Gln199His) | |
| 1 | g.146018422C= | CA1198820961 | HJV | c.936G= (p.Gln312=) c.258G= (p.Gln86=) c.597G= (p.Gln199=) | |
| 1 | g.146018422C>G | CA342135388 | HJV | c.936G>C (p.Gln312His) c.258G>C (p.Gln86His) c.597G>C (p.Gln199His) | |
| 1 | g.146018422C>T | CA420603424 | HJV | c.936G>A (p.Gln312=) c.258G>A (p.Gln86=) c.597G>A (p.Gln199=) | dbSNP |
| 1 | g.146018423T>A | CA342135392 | HJV | c.935A>T (p.Gln312Leu) c.257A>T (p.Gln86Leu) c.596A>T (p.Gln199Leu) | |
| 1 | g.146018423T>C | CA342135395 | HJV | c.935A>G (p.Gln312Arg) c.257A>G (p.Gln86Arg) c.596A>G (p.Gln199Arg) | |
| 1 | g.146018423T>G | CA342135400 | HJV | c.935A>C (p.Gln312Pro) c.257A>C (p.Gln86Pro) c.596A>C (p.Gln199Pro) | |
| 1 | g.146018424G>A | CA342135407 | HJV | c.934C>T (p.Gln312Ter) c.256C>T (p.Gln86Ter) c.595C>T (p.Gln199Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.146018424G>C | CA342135411 | HJV | c.934C>G (p.Gln312Glu) c.256C>G (p.Gln86Glu) c.595C>G (p.Gln199Glu) | |
| 1 | g.146018424G= | CA1198820962 | HJV | c.934C= (p.Gln312=) c.256C= (p.Gln86=) c.595C= (p.Gln199=) | |
| 1 | g.146018424G>T | CA342135421 | HJV | c.934C>A (p.Gln312Lys) c.256C>A (p.Gln86Lys) c.595C>A (p.Gln199Lys) | |
| 1 | g.146018425T>A | CA342135432 | HJV | c.933A>T (p.Glu311Asp) c.255A>T (p.Glu85Asp) c.594A>T (p.Glu198Asp) | |
| 1 | g.146018425T>C | CA420603428 | HJV | c.933A>G (p.Glu311=) c.255A>G (p.Glu85=) c.594A>G (p.Glu198=) | gnomAD v4 |
| 1 | g.146018425T>G | CA342135423 | HJV | c.933A>C (p.Glu311Asp) c.255A>C (p.Glu85Asp) c.594A>C (p.Glu198Asp) | |
| 1 | g.146018426T>A | CA342135436 | HJV | c.932A>T (p.Glu311Val) c.254A>T (p.Glu85Val) c.593A>T (p.Glu198Val) | |
| 1 | g.146018426T>C | CA342135438 | HJV | c.932A>G (p.Glu311Gly) c.254A>G (p.Glu85Gly) c.593A>G (p.Glu198Gly) | |
| 1 | g.146018426T>G | CA342135442 | HJV | c.932A>C (p.Glu311Ala) c.254A>C (p.Glu85Ala) c.593A>C (p.Glu198Ala) | |
| 1 | g.146018427C>A | CA342135443 | HJV | c.931G>T (p.Glu311Ter) c.253G>T (p.Glu85Ter) c.592G>T (p.Glu198Ter) | gnomAD v4 |
| 1 | g.146018427C>G | CA342135444 | HJV | c.931G>C (p.Glu311Gln) c.253G>C (p.Glu85Gln) c.592G>C (p.Glu198Gln) | |
| 1 | g.146018427C>T | CA342135445 | HJV | c.931G>A (p.Glu311Lys) c.253G>A (p.Glu85Lys) c.592G>A (p.Glu198Lys) | |
| 1 | g.146018428A>C | CA420603434 | HJV | c.930T>G (p.Ala310=) c.252T>G (p.Ala84=) c.591T>G (p.Ala197=) | |
| 1 | g.146018428A>G | CA420603435 | HJV | c.930T>C (p.Ala310=) c.252T>C (p.Ala84=) c.591T>C (p.Ala197=) | |
| 1 | g.146018428A>T | CA420603433 | HJV | c.930T>A (p.Ala310=) c.252T>A (p.Ala84=) c.591T>A (p.Ala197=) | |
| 1 | g.146018429G>A | CA342135447 | HJV | c.929C>T (p.Ala310Val) c.251C>T (p.Ala84Val) c.590C>T (p.Ala197Val) | |
| 1 | g.146018429G>C | CA1053922 | HJV | c.929C>G (p.Ala310Gly) c.251C>G (p.Ala84Gly) c.590C>G (p.Ala197Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018429G= | CA1140148041 | HJV | c.929C= (p.Ala310=) c.251C= (p.Ala84=) c.590C= (p.Ala197=) | |
| 1 | g.146018429G>T | CA342135448 | HJV | c.929C>A (p.Ala310Asp) c.251C>A (p.Ala84Asp) c.590C>A (p.Ala197Asp) | gnomAD v4 |
| 1 | g.146018430C>A | CA342135449 | HJV | c.928G>T (p.Ala310Ser) c.250G>T (p.Ala84Ser) c.589G>T (p.Ala197Ser) | |
| 1 | g.146018430C>G | CA342135450 | HJV | c.928G>C (p.Ala310Pro) c.250G>C (p.Ala84Pro) c.589G>C (p.Ala197Pro) | |
| 1 | g.146018430C>T | CA342135453 | HJV | c.928G>A (p.Ala310Thr) c.250G>A (p.Ala84Thr) c.589G>A (p.Ala197Thr) | gnomAD v4 |
| 1 | g.146018431T>A | CA420603441 | HJV | c.927A>T (p.Ser309=) c.249A>T (p.Ser83=) c.588A>T (p.Ser196=) | |
| 1 | g.146018431T>C | CA420603440 | HJV | c.927A>G (p.Ser309=) c.249A>G (p.Ser83=) c.588A>G (p.Ser196=) | dbSNP |
| 1 | g.146018431T>G | CA420603439 | HJV | c.927A>C (p.Ser309=) c.249A>C (p.Ser83=) c.588A>C (p.Ser196=) | dbSNP |
| 1 | g.146018432G>A | CA342135471 | HJV | c.926C>T (p.Ser309Leu) c.248C>T (p.Ser83Leu) c.587C>T (p.Ser196Leu) | |
| 1 | g.146018432G>C | CA342135472 | HJV | c.926C>G (p.Ser309Ter) c.248C>G (p.Ser83Ter) c.587C>G (p.Ser196Ter) | gnomAD v4 |
| 1 | g.146018432G>T | CA342135479 | HJV | c.926C>A (p.Ser309Ter) c.248C>A (p.Ser83Ter) c.587C>A (p.Ser196Ter) | COSMIC |
| 1 | g.146018433A= | CA1198820963 | HJV | c.925T= (p.Ser309=) c.247T= (p.Ser83=) c.586T= (p.Ser196=) | |
| 1 | g.146018433A>C | CA342135485 | HJV | c.925T>G (p.Ser309Ala) c.247T>G (p.Ser83Ala) c.586T>G (p.Ser196Ala) | gnomAD v4 |
| 1 | g.146018433A>G | CA342135494 | HJV | c.925T>C (p.Ser309Pro) c.247T>C (p.Ser83Pro) c.586T>C (p.Ser196Pro) | |
| 1 | g.146018433A>T | CA342135499 | HJV | c.925T>A (p.Ser309Thr) c.247T>A (p.Ser83Thr) c.586T>A (p.Ser196Thr) | dbSNP |
| 1 | g.146018434G>A | CA420603444 | HJV | c.924C>T (p.Phe308=) c.246C>T (p.Phe82=) c.585C>T (p.Phe195=) | |
| 1 | g.146018434G>C | CA342135500 | HJV | c.924C>G (p.Phe308Leu) c.246C>G (p.Phe82Leu) c.585C>G (p.Phe195Leu) | |
| 1 | g.146018434G>T | CA342135501 | HJV | c.924C>A (p.Phe308Leu) c.246C>A (p.Phe82Leu) c.585C>A (p.Phe195Leu) | |
| 1 | g.146018435A>C | CA342135509 | HJV | c.923T>G (p.Phe308Cys) c.245T>G (p.Phe82Cys) c.584T>G (p.Phe195Cys) | |
| 1 | g.146018435A>G | CA342135513 | HJV | c.923T>C (p.Phe308Ser) c.245T>C (p.Phe82Ser) c.584T>C (p.Phe195Ser) | |
| 1 | g.146018435A>T | CA342135503 | HJV | c.923T>A (p.Phe308Tyr) c.245T>A (p.Phe82Tyr) c.584T>A (p.Phe195Tyr) |