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.146018598C>A | CA342137227 | HJV | c.760G>T (p.Gly254Ter) c.82G>T (p.Gly28Ter) c.421G>T (p.Gly141Ter) c.*24G>T (n.*24G>T) | |
| 1 | g.146018598C>G | CA342137232 | HJV | c.760G>C (p.Gly254Arg) c.82G>C (p.Gly28Arg) c.421G>C (p.Gly141Arg) c.*24G>C (n.*24G>C) | |
| 1 | g.146018598C>T | CA342137234 | HJV | c.760G>A (p.Gly254Arg) c.82G>A (p.Gly28Arg) c.421G>A (p.Gly141Arg) c.*24G>A (n.*24G>A) | |
| 1 | g.146018599A>C | CA342137240 | HJV | c.759T>G (p.Asn253Lys) c.81T>G (p.Asn27Lys) c.420T>G (p.Asn140Lys) c.*23T>G (n.*23T>G) | |
| 1 | g.146018599A>G | CA420603349 | HJV | c.759T>C (p.Asn253=) c.81T>C (p.Asn27=) c.420T>C (p.Asn140=) c.*23T>C (n.*23T>C) | ClinVar |
| 1 | g.146018599A>T | CA342137249 | HJV | c.759T>A (p.Asn253Lys) c.81T>A (p.Asn27Lys) c.420T>A (p.Asn140Lys) c.*23T>A (n.*23T>A) | |
| 1 | g.146018600T>A | CA342137264 | HJV | c.758A>T (p.Asn253Ile) c.80A>T (p.Asn27Ile) c.419A>T (p.Asn140Ile) c.*22A>T (n.*22A>T) | |
| 1 | g.146018600T>C | CA342137260 | HJV | c.758A>G (p.Asn253Ser) c.80A>G (p.Asn27Ser) c.419A>G (p.Asn140Ser) c.*22A>G (n.*22A>G) | dbSNP gnomAD v4 |
| 1 | g.146018600T>G | CA342137255 | HJV | c.758A>C (p.Asn253Thr) c.80A>C (p.Asn27Thr) c.419A>C (p.Asn140Thr) c.*22A>C (n.*22A>C) | |
| 1 | g.146018600T= | CA1198821029 | HJV | c.758A= (p.Asn253=) c.80A= (p.Asn27=) c.419A= (p.Asn140=) c.*22A= (n.*22A=) | |
| 1 | g.146018601T>A | CA342137271 | HJV | c.757A>T (p.Asn253Tyr) c.79A>T (p.Asn27Tyr) c.418A>T (p.Asn140Tyr) c.*21A>T (n.*21A>T) | |
| 1 | g.146018601T>C | CA342137276 | HJV | c.757A>G (p.Asn253Asp) c.79A>G (p.Asn27Asp) c.418A>G (p.Asn140Asp) c.*21A>G (n.*21A>G) | |
| 1 | g.146018601T>G | CA342137274 | HJV | c.757A>C (p.Asn253His) c.79A>C (p.Asn27His) c.418A>C (p.Asn140His) c.*21A>C (n.*21A>C) | |
| 1 | g.146018602G>A | CA1053889 | HJV | c.756C>T (p.Ile252=) c.78C>T (p.Ile26=) c.417C>T (p.Ile139=) c.*20C>T (n.*20C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018602G>C | CA342137295 | HJV | c.756C>G (p.Ile252Met) c.78C>G (p.Ile26Met) c.417C>G (p.Ile139Met) c.*20C>G (n.*20C>G) | |
| 1 | g.146018602G= | CA1142246196 | HJV | c.756C= (p.Ile252=) c.78C= (p.Ile26=) c.417C= (p.Ile139=) c.*20C= (n.*20C=) | |
| 1 | g.146018602G>T | CA342137297 | HJV | c.756C>A (p.Ile252=) c.78C>A (p.Ile26=) c.417C>A (p.Ile139=) c.*20C>A (n.*20C>A) | ClinVar dbSNP |
| 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 |