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.
Linked Data
dbSNP Id:
rs373975096
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148807670G>C , CM000669.2:g.148807670G>C | GRCh38 |
| NC_000007.13:g.148504762G>C , CM000669.1:g.148504762G>C | GRCh37 |
| NC_000007.12:g.148135695G>C | NCBI36 |
| NG_032043.1:g.81680C>G , LRG_531:g.81680C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682263.1:n.4132C>G | ||
| ENST00000682317.1:c.*1294C>G | ENSP00000508286.1:n.*1294C>G | |
| ENST00000683292.1:c.*1128C>G | ENSP00000507503.1:n.*1128C>G | |
| ENST00000683293.1:n.3951C>G | ||
| ENST00000683744.1:c.*1294C>G | ENSP00000506949.1:n.*1294C>G | |
| ENST00000684300.1:c.*1294C>G | ENSP00000508407.1:n.*1294C>G | |
| ENST00000684400.1:n.4219C>G | ||
| ENST00000684436.1:n.2548C>G | ||
| ENST00000684510.1:n.2610C>G | ||
| ENST00000320356.7:c.2232C>G MANE Select | ENSP00000320147.2:p.Ile744Met | |
| ENST00000320356.6:c.2232C>G | ENSP00000320147.2:p.Ile744Met | |
| ENST00000350995.6:c.2100C>G | ENSP00000223193.2:p.Ile700Met | |
| ENST00000460911.5:c.2217C>G | ENSP00000419711.1:p.Ile739Met | |
| ENST00000476773.5:c.2064C>G | ENSP00000419050.1:p.Ile688Met | |
| ENST00000478654.5:c.2064C>G | ENSP00000417062.1:p.Ile688Met | |
| ENST00000483967.5:c.2190C>G | ENSP00000419856.1:p.Ile730Met | |
| ENST00000492143.5:c.*2222C>G | ENSP00000417377.1:n.*2222C>G | |
| NM_001203247.1:c.2217C>G | NP_001190176.1:p.Ile739Met | |
| NM_001203248.1:c.2190C>G | NP_001190177.1:p.Ile730Met | |
| NM_001203249.1:c.2064C>G | NP_001190178.1:p.Ile688Met | |
| NM_004456.4:c.2232C>G , LRG_531t1:c.2232C>G | NP_004447.2:p.Ile744Met | |
| NM_152998.2:c.2100C>G | NP_694543.1:p.Ile700Met | |
| XM_005249962.3:c.2241C>G | XP_005250019.1:p.Ile747Met | |
| XM_005249963.3:c.2214C>G | XP_005250020.1:p.Ile738Met | |
| XM_005249964.3:c.2088C>G | XP_005250021.1:p.Ile696Met | |
| XM_011515883.1:c.2256C>G | XP_011514185.1:p.Ile752Met | |
| XM_011515884.1:c.2232C>G | XP_011514186.1:p.Ile744Met | |
| XM_011515885.1:c.2229C>G | XP_011514187.1:p.Ile743Met | |
| XM_011515886.1:c.2208C>G | XP_011514188.1:p.Ile736Met | |
| XM_011515887.1:c.2205C>G | XP_011514189.1:p.Ile735Met | |
| XM_011515888.1:c.2205C>G | XP_011514190.1:p.Ile735Met | |
| XM_011515889.1:c.2166C>G | XP_011514191.1:p.Ile722Met | |
| XM_011515890.1:c.2139C>G | XP_011514192.1:p.Ile713Met | |
| XM_011515891.1:c.2133C>G | XP_011514193.1:p.Ile711Met | |
| XM_011515892.1:c.2130C>G | XP_011514194.1:p.Ile710Met | |
| XM_011515893.1:c.2124C>G | XP_011514195.1:p.Ile708Met | |
| XM_011515894.1:c.2115C>G | XP_011514196.1:p.Ile705Met | |
| XM_011515895.1:c.2112C>G | XP_011514197.1:p.Ile704Met | |
| XM_011515896.1:c.1998C>G | XP_011514198.1:p.Ile666Met | |
| XM_011515897.1:c.1905C>G | XP_011514199.1:p.Ile635Met | |
| XM_011515898.1:c.1905C>G | XP_011514200.1:p.Ile635Met | |
| XR_928101.1:n.515+2585G>C | ||
| XR_928102.1:n.722+2585G>C | ||
| XM_005249962.4:c.2241C>G | XP_005250019.1:p.Ile747Met | |
| XM_005249963.4:c.2214C>G | XP_005250020.1:p.Ile738Met | |
| XM_005249964.4:c.2088C>G | XP_005250021.1:p.Ile696Met | |
| XM_011515883.2:c.2256C>G | XP_011514185.1:p.Ile752Met | |
| XM_011515884.2:c.2232C>G | XP_011514186.1:p.Ile744Met | |
| XM_011515885.2:c.2229C>G | XP_011514187.1:p.Ile743Met | |
| XM_011515886.2:c.2208C>G | XP_011514188.1:p.Ile736Met | |
| XM_011515887.3:c.2205C>G | XP_011514189.1:p.Ile735Met | |
| XM_011515888.2:c.2205C>G | XP_011514190.1:p.Ile735Met | |
| XM_011515889.2:c.2166C>G | XP_011514191.1:p.Ile722Met | |
| XM_011515890.2:c.2139C>G | XP_011514192.1:p.Ile713Met | |
| XM_011515891.3:c.2133C>G | XP_011514193.1:p.Ile711Met | |
| XM_011515892.2:c.2130C>G | XP_011514194.1:p.Ile710Met | |
| XM_011515893.2:c.2124C>G | XP_011514195.1:p.Ile708Met | |
| XM_011515894.2:c.2115C>G | XP_011514196.1:p.Ile705Met | |
| XM_011515895.2:c.2112C>G | XP_011514197.1:p.Ile704Met | |
| XM_011515896.2:c.1998C>G | XP_011514198.1:p.Ile666Met | |
| XM_011515897.2:c.1905C>G | XP_011514199.1:p.Ile635Met | |
| XM_011515898.2:c.1905C>G | XP_011514200.1:p.Ile635Met | |
| XM_017011817.2:c.2256C>G | XP_016867306.1:p.Ile752Met | |
| XM_017011818.1:c.2193C>G | XP_016867307.1:p.Ile731Met | |
| XM_017011819.1:c.2115C>G | XP_016867308.1:p.Ile705Met | |
| XM_017011820.2:c.2088C>G | XP_016867309.1:p.Ile696Met | |
| XM_017011821.1:c.1890C>G | XP_016867310.1:p.Ile630Met | |
| XM_024446680.1:c.2118C>G | XP_024302448.1:p.Ile706Met | |
| XR_001744581.1:n.4606C>G | ||
| XR_002956413.1:n.5262C>G | ||
| XR_002956414.1:n.5722C>G | ||
| NM_001203247.2:c.2217C>G | NP_001190176.1:p.Ile739Met | |
| NM_001203248.2:c.2190C>G | NP_001190177.1:p.Ile730Met | |
| NM_001203249.2:c.2064C>G | NP_001190178.1:p.Ile688Met | |
| NM_004456.5:c.2232C>G MANE Select | NP_004447.2:p.Ile744Met | |
| NM_152998.3:c.2100C>G | NP_694543.1:p.Ile700Met |