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.146018603A= | CA1198821030 | HJV | c.755T= (p.Ile252=) c.77T= (p.Ile26=) c.416T= (p.Ile139=) c.*19T= (n.*19T=) | |
| 1 | g.146018603A>C | CA342137304 | HJV | c.755T>G (p.Ile252Ser) c.77T>G (p.Ile26Ser) c.416T>G (p.Ile139Ser) c.*19T>G (n.*19T>G) | |
| 1 | g.146018603A>G | CA342137317 | HJV | c.755T>C (p.Ile252Thr) c.77T>C (p.Ile26Thr) c.416T>C (p.Ile139Thr) c.*19T>C (n.*19T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.146018603A>T | CA342137320 | HJV | c.755T>A (p.Ile252Asn) c.77T>A (p.Ile26Asn) c.416T>A (p.Ile139Asn) c.*19T>A (n.*19T>A) | |
| 1 | g.146018604T>A | CA342137327 | HJV | c.754A>T (p.Ile252Phe) c.76A>T (p.Ile26Phe) c.415A>T (p.Ile139Phe) c.*18A>T (n.*18A>T) | |
| 1 | g.146018604T>C | CA342137329 | HJV | c.754A>G (p.Ile252Val) c.76A>G (p.Ile26Val) c.415A>G (p.Ile139Val) c.*18A>G (n.*18A>G) | gnomAD v4 |
| 1 | g.146018604T>G | CA342137330 | HJV | c.754A>C (p.Ile252Leu) c.76A>C (p.Ile26Leu) c.415A>C (p.Ile139Leu) c.*18A>C (n.*18A>C) | |
| 1 | g.146018605A= | CA1198821031 | HJV | c.753T= (p.Ser251=) c.75T= (p.Ser25=) c.414T= (p.Ser138=) c.*17T= (n.*17T=) | |
| 1 | g.146018605A>C | CA420603361 | HJV | c.753T>G (p.Ser251=) c.75T>G (p.Ser25=) c.414T>G (p.Ser138=) c.*17T>G (n.*17T>G) | |
| 1 | g.146018605A>G | CA420603362 | HJV | c.753T>C (p.Ser251=) c.75T>C (p.Ser25=) c.414T>C (p.Ser138=) c.*17T>C (n.*17T>C) | dbSNP |
| 1 | g.146018605A>T | CA420603360 | HJV | c.753T>A (p.Ser251=) c.75T>A (p.Ser25=) c.414T>A (p.Ser138=) c.*17T>A (n.*17T>A) | gnomAD v3 gnomAD v4 |
| 1 | g.146018606G>A | CA342137332 | HJV | c.752C>T (p.Ser251Phe) c.74C>T (p.Ser25Phe) c.413C>T (p.Ser138Phe) c.*16C>T (n.*16C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.146018606G>C | CA342137335 | HJV | c.752C>G (p.Ser251Cys) c.74C>G (p.Ser25Cys) c.413C>G (p.Ser138Cys) c.*16C>G (n.*16C>G) | |
| 1 | g.146018606G= | CA1198821032 | HJV | c.752C= (p.Ser251=) c.74C= (p.Ser25=) c.413C= (p.Ser138=) c.*16C= (n.*16C=) | |
| 1 | g.146018606G>T | CA342137342 | HJV | c.752C>A (p.Ser251Tyr) c.74C>A (p.Ser25Tyr) c.413C>A (p.Ser138Tyr) c.*16C>A (n.*16C>A) | |
| 1 | g.146018607A>C | CA342137348 | HJV | c.751T>G (p.Ser251Ala) c.73T>G (p.Ser25Ala) c.412T>G (p.Ser138Ala) c.*15T>G (n.*15T>G) | |
| 1 | g.146018607A>G | CA342137344 | HJV | c.751T>C (p.Ser251Pro) c.73T>C (p.Ser25Pro) c.412T>C (p.Ser138Pro) c.*15T>C (n.*15T>C) | |
| 1 | g.146018607A>T | CA342137346 | HJV | c.751T>A (p.Ser251Thr) c.73T>A (p.Ser25Thr) c.412T>A (p.Ser138Thr) c.*15T>A (n.*15T>A) | dbSNP |
| 1 | g.146018608A>C | CA420603370 | HJV | c.750T>G (p.Gly250=) c.72T>G (p.Gly24=) c.411T>G (p.Gly137=) c.*14T>G (n.*14T>G) | |
| 1 | g.146018608A>G | CA420603366 | HJV | c.750T>C (p.Gly250=) c.72T>C (p.Gly24=) c.411T>C (p.Gly137=) c.*14T>C (n.*14T>C) | |
| 1 | g.146018608A>T | CA420603371 | HJV | c.750T>A (p.Gly250=) c.72T>A (p.Gly24=) c.411T>A (p.Gly137=) c.*14T>A (n.*14T>A) | |
| 1 | g.146018609C>A | CA336923 | HJV | c.749G>T (p.Gly250Val) c.71G>T (p.Gly24Val) c.410G>T (p.Gly137Val) c.*13G>T (n.*13G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018609C= | CA1198821033 | HJV | c.749G= (p.Gly250=) c.71G= (p.Gly24=) c.410G= (p.Gly137=) c.*13G= (n.*13G=) | |
| 1 | g.146018609C>G | CA342137352 | HJV | c.749G>C (p.Gly250Ala) c.71G>C (p.Gly24Ala) c.410G>C (p.Gly137Ala) c.*13G>C (n.*13G>C) | gnomAD v4 |
| 1 | g.146018609C>T | CA342137356 | HJV | c.749G>A (p.Gly250Asp) c.71G>A (p.Gly24Asp) c.410G>A (p.Gly137Asp) c.*13G>A (n.*13G>A) | |
| 1 | g.146018610C>A | CA342137359 | HJV | c.748G>T (p.Gly250Cys) c.70G>T (p.Gly24Cys) c.409G>T (p.Gly137Cys) c.*12G>T (n.*12G>T) | |
| 1 | g.146018610C>G | CA342137361 | HJV | c.748G>C (p.Gly250Arg) c.70G>C (p.Gly24Arg) c.409G>C (p.Gly137Arg) c.*12G>C (n.*12G>C) | |
| 1 | g.146018610C>T | CA342137368 | HJV | c.748G>A (p.Gly250Ser) c.70G>A (p.Gly24Ser) c.409G>A (p.Gly137Ser) c.*12G>A (n.*12G>A) | |
| 1 | g.146018611A= | CA1198821034 | HJV | c.747T= (p.Asp249=) c.69T= (p.Asp23=) c.408T= (p.Asp136=) c.*11T= (n.*11T=) | |
| 1 | g.146018611A>C | CA29823951 | HJV | c.747T>G (p.Asp249Glu) c.69T>G (p.Asp23Glu) c.408T>G (p.Asp136Glu) c.*11T>G (n.*11T>G) | dbSNP |
| 1 | g.146018611A>G | CA420603376 | HJV | c.747T>C (p.Asp249=) c.69T>C (p.Asp23=) c.408T>C (p.Asp136=) c.*11T>C (n.*11T>C) | dbSNP gnomAD v4 |
| 1 | g.146018611A>T | CA342137371 | HJV | c.747T>A (p.Asp249Glu) c.69T>A (p.Asp23Glu) c.408T>A (p.Asp136Glu) c.*11T>A (n.*11T>A) | |
| 1 | g.146018612T>A | CA342137373 | HJV | c.746A>T (p.Asp249Val) c.68A>T (p.Asp23Val) c.407A>T (p.Asp136Val) c.*10A>T (n.*10A>T) | gnomAD v4 |
| 1 | g.146018612T>C | CA342137375 | HJV | c.746A>G (p.Asp249Gly) c.68A>G (p.Asp23Gly) c.407A>G (p.Asp136Gly) c.*10A>G (n.*10A>G) | COSMIC |
| 1 | g.146018612T>G | CA342137377 | HJV | c.746A>C (p.Asp249Ala) c.68A>C (p.Asp23Ala) c.407A>C (p.Asp136Ala) c.*10A>C (n.*10A>C) | |
| 1 | g.146018613C>A | CA342137384 | HJV | c.745G>T (p.Asp249Tyr) c.67G>T (p.Asp23Tyr) c.406G>T (p.Asp136Tyr) c.*9G>T (n.*9G>T) | |
| 1 | g.146018613C= | CA1198821035 | HJV | c.745G= (p.Asp249=) c.67G= (p.Asp23=) c.406G= (p.Asp136=) c.*9G= (n.*9G=) | |
| 1 | g.146018613C>G | CA342137388 | HJV | c.745G>C (p.Asp249His) c.67G>C (p.Asp23His) c.406G>C (p.Asp136His) c.*9G>C (n.*9G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.146018613C>T | CA342137382 | HJV | c.745G>A (p.Asp249Asn) c.67G>A (p.Asp23Asn) c.406G>A (p.Asp136Asn) c.*9G>A (n.*9G>A) | gnomAD v4 |
| 1 | g.146018614T>A | CA342137390 | HJV | c.744A>T (p.Glu248Asp) c.66A>T (p.Glu22Asp) c.405A>T (p.Glu135Asp) c.*8A>T (n.*8A>T) | |
| 1 | g.146018614T>C | CA420603381 | HJV | c.744A>G (p.Glu248=) c.66A>G (p.Glu22=) c.405A>G (p.Glu135=) c.*8A>G (n.*8A>G) | |
| 1 | g.146018614T>G | CA342137392 | HJV | c.744A>C (p.Glu248Asp) c.66A>C (p.Glu22Asp) c.405A>C (p.Glu135Asp) c.*8A>C (n.*8A>C) | |
| 1 | g.146018615T>A | CA342137393 | HJV | c.743A>T (p.Glu248Val) c.65A>T (p.Glu22Val) c.404A>T (p.Glu135Val) c.*7A>T (n.*7A>T) | |
| 1 | g.146018615T>C | CA342137394 | HJV | c.743A>G (p.Glu248Gly) c.65A>G (p.Glu22Gly) c.404A>G (p.Glu135Gly) c.*7A>G (n.*7A>G) | |
| 1 | g.146018615T>G | CA342137395 | HJV | c.743A>C (p.Glu248Ala) c.65A>C (p.Glu22Ala) c.404A>C (p.Glu135Ala) c.*7A>C (n.*7A>C) | |
| 1 | g.146018616C>A | CA342137396 | HJV | c.742G>T (p.Glu248Ter) c.64G>T (p.Glu22Ter) c.403G>T (p.Glu135Ter) c.*6G>T (n.*6G>T) | |
| 1 | g.146018616C>G | CA342137397 | HJV | c.742G>C (p.Glu248Gln) c.64G>C (p.Glu22Gln) c.403G>C (p.Glu135Gln) c.*6G>C (n.*6G>C) | |
| 1 | g.146018616C>T | CA342137398 | HJV | c.742G>A (p.Glu248Lys) c.64G>A (p.Glu22Lys) c.403G>A (p.Glu135Lys) c.*6G>A (n.*6G>A) | |
| 1 | g.146018617A>C | CA342137401 | HJV | c.741T>G (p.Phe247Leu) c.63T>G (p.Phe21Leu) c.402T>G (p.Phe134Leu) c.*5T>G (n.*5T>G) | |
| 1 | g.146018617A>G | CA420603391 | HJV | c.741T>C (p.Phe247=) c.63T>C (p.Phe21=) c.402T>C (p.Phe134=) c.*5T>C (n.*5T>C) |