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 |
|---|---|---|---|---|---|
| 14 | g.76439496C>A | CA390540322 | ESRRB | c.143C>A (p.Ala48Asp) c.158C>A (p.Ala53Asp) c.206C>A (p.Ala69Asp) n.251C>A n.453C>A n.676C>A | |
| 14 | g.76439496C= | CA2147935391 | ESRRB | c.143C= (p.Ala48=) c.158C= (p.Ala53=) c.206C= (p.Ala69=) n.251C= n.453C= n.676C= | |
| 14 | g.76439496C>G | CA390540323 | ESRRB | c.143C>G (p.Ala48Gly) c.158C>G (p.Ala53Gly) c.206C>G (p.Ala69Gly) n.251C>G n.453C>G n.676C>G | |
| 14 | g.76439496C>T | CA182143 | ESRRB | c.143C>T (p.Ala48Val) c.158C>T (p.Ala53Val) c.206C>T (p.Ala69Val) n.251C>T n.453C>T n.676C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.76439497C>A | CA487277653 | ESRRB | c.144C>A (p.Ala48=) c.159C>A (p.Ala53=) c.207C>A (p.Ala69=) n.252C>A n.454C>A n.677C>A | |
| 14 | g.76439497C= | CA2147935396 | ESRRB | c.144C= (p.Ala48=) c.159C= (p.Ala53=) c.207C= (p.Ala69=) n.252C= n.454C= n.677C= | |
| 14 | g.76439497C>G | CA264011438 | ESRRB | c.144C>G (p.Ala48=) c.159C>G (p.Ala53=) c.207C>G (p.Ala69=) n.252C>G n.454C>G n.677C>G | dbSNP |
| 14 | g.76439497C>T | CA487277654 | ESRRB | c.144C>T (p.Ala48=) c.159C>T (p.Ala53=) c.207C>T (p.Ala69=) n.252C>T n.454C>T n.677C>T | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.76439498C>A | CA390540324 | ESRRB | c.145C>A (p.Leu49Met) c.160C>A (p.Leu54Met) c.208C>A (p.Leu70Met) n.253C>A n.455C>A n.678C>A | |
| 14 | g.76439498C>G | CA390540325 | ESRRB | c.145C>G (p.Leu49Val) c.160C>G (p.Leu54Val) c.208C>G (p.Leu70Val) n.253C>G n.455C>G n.678C>G | |
| 14 | g.76439498C>T | CA487277655 | ESRRB | c.145C>T (p.Leu49=) c.160C>T (p.Leu54=) c.208C>T (p.Leu70=) n.253C>T n.455C>T n.678C>T | |
| 14 | g.76439499T>A | CA390540327 | ESRRB | c.146T>A (p.Leu49Gln) c.161T>A (p.Leu54Gln) c.209T>A (p.Leu70Gln) n.254T>A n.456T>A n.679T>A | |
| 14 | g.76439499T>C | CA390540328 | ESRRB | c.146T>C (p.Leu49Pro) c.161T>C (p.Leu54Pro) c.209T>C (p.Leu70Pro) n.254T>C n.456T>C n.679T>C | |
| 14 | g.76439499T>G | CA390540326 | ESRRB | c.146T>G (p.Leu49Arg) c.161T>G (p.Leu54Arg) c.209T>G (p.Leu70Arg) n.254T>G n.456T>G n.679T>G | |
| 14 | g.76439500G>A | CA487277658 | ESRRB | c.147G>A (p.Leu49=) c.162G>A (p.Leu54=) c.210G>A (p.Leu70=) n.255G>A n.457G>A n.680G>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.76439500G>C | CA487277657 | ESRRB | c.147G>C (p.Leu49=) c.162G>C (p.Leu54=) c.210G>C (p.Leu70=) n.255G>C n.457G>C n.680G>C | |
| 14 | g.76439500G= | CA2147935400 | ESRRB | c.147G= (p.Leu49=) c.162G= (p.Leu54=) c.210G= (p.Leu70=) n.255G= n.457G= n.680G= | |
| 14 | g.76439500G>T | CA487277656 | ESRRB | c.147G>T (p.Leu49=) c.162G>T (p.Leu54=) c.210G>T (p.Leu70=) n.255G>T n.457G>T n.680G>T | gnomAD v4 |
| 14 | g.76439501G>A | CA390540329 | ESRRB | c.148G>A (p.Gly50Ser) c.163G>A (p.Gly55Ser) c.211G>A (p.Gly71Ser) n.256G>A n.458G>A n.681G>A | |
| 14 | g.76439501G>C | CA390540330 | ESRRB | c.148G>C (p.Gly50Arg) c.163G>C (p.Gly55Arg) c.211G>C (p.Gly71Arg) n.256G>C n.458G>C n.681G>C | |
| 14 | g.76439501G>T | CA390540331 | ESRRB | c.148G>T (p.Gly50Cys) c.163G>T (p.Gly55Cys) c.211G>T (p.Gly71Cys) n.256G>T n.458G>T n.681G>T | gnomAD v4 |
| 14 | g.76439502G>A | CA390540332 | ESRRB | c.149G>A (p.Gly50Asp) c.164G>A (p.Gly55Asp) c.212G>A (p.Gly71Asp) n.257G>A n.459G>A n.682G>A | |
| 14 | g.76439502G>C | CA390540333 | ESRRB | c.149G>C (p.Gly50Ala) c.164G>C (p.Gly55Ala) c.212G>C (p.Gly71Ala) n.257G>C n.459G>C n.682G>C | |
| 14 | g.76439502G>T | CA390540334 | ESRRB | c.149G>T (p.Gly50Val) c.164G>T (p.Gly55Val) c.212G>T (p.Gly71Val) n.257G>T n.459G>T n.682G>T | |
| 14 | g.76439503C>A | CA487277661 | ESRRB | c.150C>A (p.Gly50=) c.165C>A (p.Gly55=) c.213C>A (p.Gly71=) n.258C>A n.460C>A n.683C>A | |
| 14 | g.76439503C= | CA2147935403 | ESRRB | c.150C= (p.Gly50=) c.165C= (p.Gly55=) c.213C= (p.Gly71=) n.258C= n.460C= n.683C= | |
| 14 | g.76439503C>G | CA487277660 | ESRRB | c.150C>G (p.Gly50=) c.165C>G (p.Gly55=) c.213C>G (p.Gly71=) n.258C>G n.460C>G n.683C>G | |
| 14 | g.76439503C>T | CA487277659 | ESRRB | c.150C>T (p.Gly50=) c.165C>T (p.Gly55=) c.213C>T (p.Gly71=) n.258C>T n.460C>T n.683C>T | dbSNP |
| 14 | g.76439504A>C | CA390540335 | ESRRB | c.151A>C (p.Thr51Pro) c.166A>C (p.Thr56Pro) c.214A>C (p.Thr72Pro) n.259A>C n.461A>C n.684A>C | |
| 14 | g.76439504A>G | CA390540336 | ESRRB | c.151A>G (p.Thr51Ala) c.166A>G (p.Thr56Ala) c.214A>G (p.Thr72Ala) n.259A>G n.461A>G n.684A>G | |
| 14 | g.76439504A>T | CA390540337 | ESRRB | c.151A>T (p.Thr51Ser) c.166A>T (p.Thr56Ser) c.214A>T (p.Thr72Ser) n.259A>T n.461A>T n.684A>T | |
| 14 | g.76439505C>A | CA390540338 | ESRRB | c.152C>A (p.Thr51Asn) c.167C>A (p.Thr56Asn) c.215C>A (p.Thr72Asn) n.260C>A n.462C>A n.685C>A | gnomAD v4 |
| 14 | g.76439505C= | CA2147935405 | ESRRB | c.152C= (p.Thr51=) c.167C= (p.Thr56=) c.215C= (p.Thr72=) n.260C= n.462C= n.685C= | |
| 14 | g.76439505C>G | CA390540339 | ESRRB | c.152C>G (p.Thr51Ser) c.167C>G (p.Thr56Ser) c.215C>G (p.Thr72Ser) n.260C>G n.462C>G n.685C>G | |
| 14 | g.76439505C>T | CA390540340 | ESRRB | c.152C>T (p.Thr51Ile) c.167C>T (p.Thr56Ile) c.215C>T (p.Thr72Ile) n.260C>T n.462C>T n.685C>T | dbSNP gnomAD v2 |
| 14 | g.76439506C>A | CA487277662 | ESRRB | c.153C>A (p.Thr51=) c.168C>A (p.Thr56=) c.216C>A (p.Thr72=) n.261C>A n.463C>A n.686C>A | |
| 14 | g.76439506C= | CA2147935408 | ESRRB | c.153C= (p.Thr51=) c.168C= (p.Thr56=) c.216C= (p.Thr72=) n.261C= n.463C= n.686C= | |
| 14 | g.76439506C>G | CA487277664 | ESRRB | c.153C>G (p.Thr51=) c.168C>G (p.Thr56=) c.216C>G (p.Thr72=) n.261C>G n.463C>G n.686C>G | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.76439506C>T | CA487277663 | ESRRB | c.153C>T (p.Thr51=) c.168C>T (p.Thr56=) c.216C>T (p.Thr72=) n.261C>T n.463C>T n.686C>T | |
| 14 | g.76439507C>A | CA390540343 | ESRRB | c.154C>A (p.His52Asn) c.169C>A (p.His57Asn) c.217C>A (p.His73Asn) n.262C>A n.464C>A n.687C>A | |
| 14 | g.76439507C>G | CA390540342 | ESRRB | c.154C>G (p.His52Asp) c.169C>G (p.His57Asp) c.217C>G (p.His73Asp) n.262C>G n.464C>G n.687C>G | |
| 14 | g.76439507C>T | CA390540341 | ESRRB | c.154C>T (p.His52Tyr) c.169C>T (p.His57Tyr) c.217C>T (p.His73Tyr) n.262C>T n.464C>T n.687C>T | |
| 14 | g.76439508A>C | CA390540344 | ESRRB | c.155A>C (p.His52Pro) c.170A>C (p.His57Pro) c.218A>C (p.His73Pro) n.263A>C n.465A>C n.688A>C | COSMIC COSMIC |
| 14 | g.76439508A>G | CA390540345 | ESRRB | c.155A>G (p.His52Arg) c.170A>G (p.His57Arg) c.218A>G (p.His73Arg) n.263A>G n.465A>G n.688A>G | |
| 14 | g.76439508A>T | CA390540346 | ESRRB | c.155A>T (p.His52Leu) c.170A>T (p.His57Leu) c.218A>T (p.His73Leu) n.263A>T n.465A>T n.688A>T | |
| 14 | g.76439509C>A | CA390540347 | ESRRB | c.156C>A (p.His52Gln) c.171C>A (p.His57Gln) c.219C>A (p.His73Gln) n.264C>A n.466C>A n.689C>A | dbSNP gnomAD v4 |
| 14 | g.76439509C= | CA2147935411 | ESRRB | c.156C= (p.His52=) c.171C= (p.His57=) c.219C= (p.His73=) n.264C= n.466C= n.689C= | |
| 14 | g.76439509C>G | CA7281528 | ESRRB | c.156C>G (p.His52Gln) c.171C>G (p.His57Gln) c.219C>G (p.His73Gln) n.264C>G n.466C>G n.689C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.76439509C>T | CA264011439 | ESRRB | c.156C>T (p.His52=) c.171C>T (p.His57=) c.219C>T (p.His73=) n.264C>T n.466C>T n.689C>T | dbSNP gnomAD v4 COSMIC COSMIC |
| 14 | g.76439510G>A | CA390540348 | ESRRB | c.157G>A (p.Ala53Thr) c.172G>A (p.Ala58Thr) c.220G>A (p.Ala74Thr) n.265G>A n.467G>A n.690G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |