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.146018493G>A | CA342136241 | HJV | c.865C>T (p.Gln289Ter) c.187C>T (p.Gln63Ter) c.526C>T (p.Gln176Ter) | |
| 1 | g.146018493G>C | CA342136244 | HJV | c.865C>G (p.Gln289Glu) c.187C>G (p.Gln63Glu) c.526C>G (p.Gln176Glu) | |
| 1 | g.146018493G>T | CA342136248 | HJV | c.865C>A (p.Gln289Lys) c.187C>A (p.Gln63Lys) c.526C>A (p.Gln176Lys) | |
| 1 | g.146018494C>A | CA420603525 | HJV | c.864G>T (p.Arg288=) c.186G>T (p.Arg62=) c.525G>T (p.Arg175=) | |
| 1 | g.146018494C= | CA1198820987 | HJV | c.864G= (p.Arg288=) c.186G= (p.Arg62=) c.525G= (p.Arg175=) | |
| 1 | g.146018494C>G | CA420603523 | HJV | c.864G>C (p.Arg288=) c.186G>C (p.Arg62=) c.525G>C (p.Arg175=) | |
| 1 | g.146018494C>T | CA420603522 | HJV | c.864G>A (p.Arg288=) c.186G>A (p.Arg62=) c.525G>A (p.Arg175=) | dbSNP gnomAD v4 |
| 1 | g.146018495C>A | CA29823803 | HJV | c.863G>T (p.Arg288Leu) c.185G>T (p.Arg62Leu) c.524G>T (p.Arg175Leu) | |
| 1 | g.146018495C= | CA1143935447 | HJV | c.863G= (p.Arg288=) c.185G= (p.Arg62=) c.524G= (p.Arg175=) | |
| 1 | g.146018495C>G | CA29823804 | HJV | c.863G>C (p.Arg288Pro) c.185G>C (p.Arg62Pro) c.524G>C (p.Arg175Pro) | |
| 1 | g.146018495C>T | CA1053908 | HJV | c.863G>A (p.Arg288Gln) c.185G>A (p.Arg62Gln) c.524G>A (p.Arg175Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018496G>A | CA1053907 | HJV | c.862C>T (p.Arg288Trp) c.184C>T (p.Arg62Trp) c.523C>T (p.Arg175Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.146018496G>C | CA29823807 | HJV | c.862C>G (p.Arg288Gly) c.184C>G (p.Arg62Gly) c.523C>G (p.Arg175Gly) | gnomAD v4 |
| 1 | g.146018496G= | CA1198820988 | HJV | c.862C= (p.Arg288=) c.184C= (p.Arg62=) c.523C= (p.Arg175=) | |
| 1 | g.146018496G>T | CA29823811 | HJV | c.862C>A (p.Arg288=) c.184C>A (p.Arg62=) c.523C>A (p.Arg175=) | |
| 1 | g.146018497A>C | CA342136268 | HJV | c.861T>G (p.Ile287Met) c.183T>G (p.Ile61Met) c.522T>G (p.Ile174Met) | |
| 1 | g.146018497A>G | CA420603530 | HJV | c.861T>C (p.Ile287=) c.183T>C (p.Ile61=) c.522T>C (p.Ile174=) | |
| 1 | g.146018497A>T | CA420603529 | HJV | c.861T>A (p.Ile287=) c.183T>A (p.Ile61=) c.522T>A (p.Ile174=) | |
| 1 | g.146018498A>C | CA342136269 | HJV | c.860T>G (p.Ile287Ser) c.182T>G (p.Ile61Ser) c.521T>G (p.Ile174Ser) | |
| 1 | g.146018498A>G | CA342136272 | HJV | c.860T>C (p.Ile287Thr) c.182T>C (p.Ile61Thr) c.521T>C (p.Ile174Thr) | |
| 1 | g.146018498A>T | CA342136276 | HJV | c.860T>A (p.Ile287Asn) c.182T>A (p.Ile61Asn) c.521T>A (p.Ile174Asn) | |
| 1 | g.146018499T>A | CA342136284 | HJV | c.859A>T (p.Ile287Phe) c.181A>T (p.Ile61Phe) c.520A>T (p.Ile174Phe) | |
| 1 | g.146018499T>C | CA342136290 | HJV | c.859A>G (p.Ile287Val) c.181A>G (p.Ile61Val) c.520A>G (p.Ile174Val) | |
| 1 | g.146018499T>G | CA342136292 | HJV | c.859A>C (p.Ile287Leu) c.181A>C (p.Ile61Leu) c.520A>C (p.Ile174Leu) | |
| 1 | g.146018500G>A | CA420603532 | HJV | c.858C>T (p.Ile286=) c.180C>T (p.Ile60=) c.519C>T (p.Ile173=) | dbSNP |
| 1 | g.146018500G>C | CA342136303 | HJV | c.858C>G (p.Ile286Met) c.180C>G (p.Ile60Met) c.519C>G (p.Ile173Met) | |
| 1 | g.146018500G= | CA1198820989 | HJV | c.858C= (p.Ile286=) c.180C= (p.Ile60=) c.519C= (p.Ile173=) | |
| 1 | g.146018500G>T | CA420603531 | HJV | c.858C>A (p.Ile286=) c.180C>A (p.Ile60=) c.519C>A (p.Ile173=) | gnomAD v4 |
| 1 | g.146018501A>C | CA342136308 | HJV | c.857T>G (p.Ile286Ser) c.179T>G (p.Ile60Ser) c.518T>G (p.Ile173Ser) | |
| 1 | g.146018501A>G | CA342136310 | HJV | c.857T>C (p.Ile286Thr) c.179T>C (p.Ile60Thr) c.518T>C (p.Ile173Thr) | |
| 1 | g.146018501A>T | CA342136316 | HJV | c.857T>A (p.Ile286Asn) c.179T>A (p.Ile60Asn) c.518T>A (p.Ile173Asn) | |
| 1 | g.146018502T>A | CA342136326 | HJV | c.856A>T (p.Ile286Phe) c.178A>T (p.Ile60Phe) c.517A>T (p.Ile173Phe) | |
| 1 | g.146018502T>C | CA342136334 | HJV | c.856A>G (p.Ile286Val) c.178A>G (p.Ile60Val) c.517A>G (p.Ile173Val) | |
| 1 | g.146018502T>G | CA342136357 | HJV | c.856A>C (p.Ile286Leu) c.178A>C (p.Ile60Leu) c.517A>C (p.Ile173Leu) | |
| 1 | g.146018503T>A | CA420603538 | HJV | c.855A>T (p.Ile285=) c.177A>T (p.Ile59=) c.516A>T (p.Ile172=) | |
| 1 | g.146018503T>C | CA342136363 | HJV | c.855A>G (p.Ile285Met) c.177A>G (p.Ile59Met) c.516A>G (p.Ile172Met) | |
| 1 | g.146018503T>G | CA420603537 | HJV | c.855A>C (p.Ile285=) c.177A>C (p.Ile59=) c.516A>C (p.Ile172=) | dbSNP gnomAD v4 |
| 1 | g.146018503T= | CA1198820990 | HJV | c.855A= (p.Ile285=) c.177A= (p.Ile59=) c.516A= (p.Ile172=) | |
| 1 | g.146018504A>C | CA342136365 | HJV | c.854T>G (p.Ile285Arg) c.176T>G (p.Ile59Arg) c.515T>G (p.Ile172Arg) | |
| 1 | g.146018504A>G | CA342136371 | HJV | c.854T>C (p.Ile285Thr) c.176T>C (p.Ile59Thr) c.515T>C (p.Ile172Thr) | |
| 1 | g.146018504A>T | CA342136367 | HJV | c.854T>A (p.Ile285Lys) c.176T>A (p.Ile59Lys) c.515T>A (p.Ile172Lys) | |
| 1 | g.146018505T>A | CA342136372 | HJV | c.853A>T (p.Ile285Leu) c.175A>T (p.Ile59Leu) c.514A>T (p.Ile172Leu) | |
| 1 | g.146018505T>C | CA342136373 | HJV | c.853A>G (p.Ile285Val) c.175A>G (p.Ile59Val) c.514A>G (p.Ile172Val) | dbSNP gnomAD v4 |
| 1 | g.146018505T>G | CA342136374 | HJV | c.853A>C (p.Ile285Leu) c.175A>C (p.Ile59Leu) c.514A>C (p.Ile172Leu) | |
| 1 | g.146018505T= | CA1198820991 | HJV | c.853A= (p.Ile285=) c.175A= (p.Ile59=) c.514A= (p.Ile172=) | |
| 1 | g.146018506A>C | CA420603542 | HJV | c.852T>G (p.Thr284=) c.174T>G (p.Thr58=) c.513T>G (p.Thr171=) | |
| 1 | g.146018506A>G | CA420603541 | HJV | c.852T>C (p.Thr284=) c.174T>C (p.Thr58=) c.513T>C (p.Thr171=) | gnomAD v4 |
| 1 | g.146018506A>T | CA420603540 | HJV | c.852T>A (p.Thr284=) c.174T>A (p.Thr58=) c.513T>A (p.Thr171=) | |
| 1 | g.146018507G>A | CA342136379 | HJV | c.851C>T (p.Thr284Ile) c.173C>T (p.Thr58Ile) c.512C>T (p.Thr171Ile) | |
| 1 | g.146018507G>C | CA342136380 | HJV | c.851C>G (p.Thr284Ser) c.173C>G (p.Thr58Ser) c.512C>G (p.Thr171Ser) |