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:
rs2129469016
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148811647A>C , CM000669.2:g.148811647A>C | GRCh38 |
| NC_000007.13:g.148508739A>C , CM000669.1:g.148508739A>C | GRCh37 |
| NC_000007.12:g.148139672A>C | NCBI36 |
| NG_032043.1:g.77703T>G , LRG_531:g.77703T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682263.1:n.3825T>G | ||
| ENST00000682317.1:c.*987T>G | ENSP00000508286.1:n.*987T>G | |
| ENST00000683292.1:c.*821T>G | ENSP00000507503.1:n.*821T>G | |
| ENST00000683293.1:n.3644T>G | ||
| ENST00000683744.1:c.*987T>G | ENSP00000506949.1:n.*987T>G | |
| ENST00000684300.1:c.*987T>G | ENSP00000508407.1:n.*987T>G | |
| ENST00000684400.1:n.2816T>G | ||
| ENST00000684436.1:n.2241T>G | ||
| ENST00000684510.1:n.2303T>G | ||
| ENST00000320356.7:c.1925T>G MANE Select | ENSP00000320147.2:p.Phe642Cys | |
| ENST00000320356.6:c.1925T>G | ENSP00000320147.2:p.Phe642Cys | |
| ENST00000350995.6:c.1793T>G | ENSP00000223193.2:p.Phe598Cys | |
| ENST00000460911.5:c.1910T>G | ENSP00000419711.1:p.Phe637Cys | |
| ENST00000469631.1:n.177T>G | ||
| ENST00000476773.5:c.1757T>G | ENSP00000419050.1:p.Phe586Cys | |
| ENST00000478654.5:c.1757T>G | ENSP00000417062.1:p.Phe586Cys | |
| ENST00000483967.5:c.1883T>G | ENSP00000419856.1:p.Phe628Cys | |
| ENST00000492143.5:c.*1915T>G | ENSP00000417377.1:n.*1915T>G | |
| NM_001203247.1:c.1910T>G | NP_001190176.1:p.Phe637Cys | |
| NM_001203248.1:c.1883T>G | NP_001190177.1:p.Phe628Cys | |
| NM_001203249.1:c.1757T>G | NP_001190178.1:p.Phe586Cys | |
| NM_004456.4:c.1925T>G , LRG_531t1:c.1925T>G | NP_004447.2:p.Phe642Cys | |
| NM_152998.2:c.1793T>G | NP_694543.1:p.Phe598Cys | |
| XM_005249962.3:c.1934T>G | XP_005250019.1:p.Phe645Cys | |
| XM_005249963.3:c.1907T>G | XP_005250020.1:p.Phe636Cys | |
| XM_005249964.3:c.1781T>G | XP_005250021.1:p.Phe594Cys | |
| XM_011515883.1:c.1949T>G | XP_011514185.1:p.Phe650Cys | |
| XM_011515884.1:c.1925T>G | XP_011514186.1:p.Phe642Cys | |
| XM_011515885.1:c.1922T>G | XP_011514187.1:p.Phe641Cys | |
| XM_011515886.1:c.1901T>G | XP_011514188.1:p.Phe634Cys | |
| XM_011515887.1:c.1898T>G | XP_011514189.1:p.Phe633Cys | |
| XM_011515888.1:c.1898T>G | XP_011514190.1:p.Phe633Cys | |
| XM_011515889.1:c.1859T>G | XP_011514191.1:p.Phe620Cys | |
| XM_011515890.1:c.1832T>G | XP_011514192.1:p.Phe611Cys | |
| XM_011515891.1:c.1826T>G | XP_011514193.1:p.Phe609Cys | |
| XM_011515892.1:c.1823T>G | XP_011514194.1:p.Phe608Cys | |
| XM_011515893.1:c.1817T>G | XP_011514195.1:p.Phe606Cys | |
| XM_011515894.1:c.1808T>G | XP_011514196.1:p.Phe603Cys | |
| XM_011515895.1:c.1805T>G | XP_011514197.1:p.Phe602Cys | |
| XM_011515896.1:c.1691T>G | XP_011514198.1:p.Phe564Cys | |
| XM_011515897.1:c.1598T>G | XP_011514199.1:p.Phe533Cys | |
| XM_011515898.1:c.1598T>G | XP_011514200.1:p.Phe533Cys | |
| XR_928101.1:n.515+6562A>C | ||
| XR_928102.1:n.722+6562A>C | ||
| XM_005249962.4:c.1934T>G | XP_005250019.1:p.Phe645Cys | |
| XM_005249963.4:c.1907T>G | XP_005250020.1:p.Phe636Cys | |
| XM_005249964.4:c.1781T>G | XP_005250021.1:p.Phe594Cys | |
| XM_011515883.2:c.1949T>G | XP_011514185.1:p.Phe650Cys | |
| XM_011515884.2:c.1925T>G | XP_011514186.1:p.Phe642Cys | |
| XM_011515885.2:c.1922T>G | XP_011514187.1:p.Phe641Cys | |
| XM_011515886.2:c.1901T>G | XP_011514188.1:p.Phe634Cys | |
| XM_011515887.3:c.1898T>G | XP_011514189.1:p.Phe633Cys | |
| XM_011515888.2:c.1898T>G | XP_011514190.1:p.Phe633Cys | |
| XM_011515889.2:c.1859T>G | XP_011514191.1:p.Phe620Cys | |
| XM_011515890.2:c.1832T>G | XP_011514192.1:p.Phe611Cys | |
| XM_011515891.3:c.1826T>G | XP_011514193.1:p.Phe609Cys | |
| XM_011515892.2:c.1823T>G | XP_011514194.1:p.Phe608Cys | |
| XM_011515893.2:c.1817T>G | XP_011514195.1:p.Phe606Cys | |
| XM_011515894.2:c.1808T>G | XP_011514196.1:p.Phe603Cys | |
| XM_011515895.2:c.1805T>G | XP_011514197.1:p.Phe602Cys | |
| XM_011515896.2:c.1691T>G | XP_011514198.1:p.Phe564Cys | |
| XM_011515897.2:c.1598T>G | XP_011514199.1:p.Phe533Cys | |
| XM_011515898.2:c.1598T>G | XP_011514200.1:p.Phe533Cys | |
| XM_017011817.2:c.1949T>G | XP_016867306.1:p.Phe650Cys | |
| XM_017011818.1:c.1886T>G | XP_016867307.1:p.Phe629Cys | |
| XM_017011819.1:c.1808T>G | XP_016867308.1:p.Phe603Cys | |
| XM_017011820.2:c.1781T>G | XP_016867309.1:p.Phe594Cys | |
| XM_017011821.1:c.1583T>G | XP_016867310.1:p.Phe528Cys | |
| XM_024446680.1:c.1811T>G | XP_024302448.1:p.Phe604Cys | |
| XR_001744581.1:n.4299T>G | ||
| XR_002956413.1:n.4955T>G | ||
| XR_002956414.1:n.5415T>G | ||
| NM_001203247.2:c.1910T>G | NP_001190176.1:p.Phe637Cys | |
| NM_001203248.2:c.1883T>G | NP_001190177.1:p.Phe628Cys | |
| NM_001203249.2:c.1757T>G | NP_001190178.1:p.Phe586Cys | |
| NM_004456.5:c.1925T>G MANE Select | NP_004447.2:p.Phe642Cys | |
| NM_152998.3:c.1793T>G | NP_694543.1:p.Phe598Cys |