Linked Data
ClinVar Variation Id:
343254
ClinVar RCV Id:
RCV002278534
dbSNP Id:
rs141626835
ExAC:
3:129221611 C / T
gnomAD v2:
3-129221611-C-T
gnomAD v3:
3-129502768-C-T
gnomAD v4:
3-129502768-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129502768C>T , CM000665.2:g.129502768C>T | GRCh38 |
| NC_000003.11:g.129221611C>T , CM000665.1:g.129221611C>T | GRCh37 |
| NC_000003.10:g.130704301C>T | NCBI36 |
| NG_023392.1:g.67644C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000431818.8:c.*1643C>T | ENSP00000410946.3:n.*1643C>T | |
| ENST00000440957.7:c.*1754C>T | ENSP00000401569.3:n.*1754C>T | |
| ENST00000504021.6:c.2046C>T | ENSP00000422179.2:p.Cys682= | |
| ENST00000507221.2:c.519C>T | ENSP00000427515.2:p.Cys173= | |
| ENST00000509522.6:c.805C>T | ||
| ENST00000512157.6:c.*853C>T | ENSP00000424206.2:n.*853C>T | |
| ENST00000513932.2:n.723C>T | ||
| ENST00000515783.6:c.1938C>T | ENSP00000423288.2:p.Cys646= | |
| ENST00000685087.1:c.1989C>T | ENSP00000509245.1:p.Cys663= | |
| ENST00000685122.1:c.519C>T | ENSP00000510278.1:p.Cys173= | |
| ENST00000685189.1:c.*2164C>T | ENSP00000510418.1:n.*2164C>T | |
| ENST00000685282.1:c.2433C>T | ENSP00000508642.1:p.Cys811= | |
| ENST00000685447.1:c.2202C>T | ENSP00000509155.1:p.Cys734= | |
| ENST00000685512.1:n.2980C>T | ||
| ENST00000685811.1:n.3171C>T | ||
| ENST00000685921.1:c.2145C>T | ENSP00000509914.1:p.Cys715= | |
| ENST00000685939.1:c.*853C>T | ENSP00000509414.1:n.*853C>T | |
| ENST00000686375.1:c.*853C>T | ENSP00000510777.1:n.*853C>T | |
| ENST00000686473.1:c.2091C>T | ENSP00000508526.1:p.Cys697= | |
| ENST00000686531.1:c.2037C>T | ENSP00000510570.1:p.Cys679= | |
| ENST00000686830.1:c.2094C>T | ENSP00000510002.1:p.Cys698= | |
| ENST00000687377.1:c.2379C>T | ENSP00000509225.1:p.Cys793= | |
| ENST00000687398.1:c.*1891C>T | ENSP00000510191.1:n.*1891C>T | |
| ENST00000687461.1:n.2795C>T | ||
| ENST00000687645.1:c.2433C>T | ENSP00000510672.1:p.Cys811= | |
| ENST00000687766.1:c.1752C>T | ENSP00000509886.1:p.Cys584= | |
| ENST00000687791.1:c.2202C>T | ENSP00000509224.1:p.Cys734= | |
| ENST00000687845.1:c.2046C>T | ENSP00000508687.1:p.Cys682= | |
| ENST00000687864.1:n.2453C>T | ||
| ENST00000688020.1:c.2277C>T | ENSP00000508904.1:p.Cys759= | |
| ENST00000688129.1:c.*2035C>T | ENSP00000509382.1:n.*2035C>T | |
| ENST00000688266.1:n.2041C>T | ||
| ENST00000688392.1:n.2844C>T | ||
| ENST00000688504.1:n.2399C>T | ||
| ENST00000688527.1:c.573C>T | ENSP00000508740.1:p.Cys191= | |
| ENST00000688657.1:c.411C>T | ENSP00000508933.1:p.Cys137= | |
| ENST00000688664.1:c.*1681C>T | ENSP00000510359.1:n.*1681C>T | |
| ENST00000688970.1:n.2637C>T | ||
| ENST00000689005.1:c.1953C>T | ENSP00000510168.1:p.Cys651= | |
| ENST00000689313.1:c.2409C>T | ENSP00000509012.1:p.Cys803= | |
| ENST00000689332.1:c.2256C>T | ENSP00000510425.1:p.Cys752= | |
| ENST00000689384.1:n.2838C>T | ||
| ENST00000689492.1:c.2109C>T | ENSP00000510239.1:p.Cys703= | |
| ENST00000689643.1:c.2433C>T | ENSP00000509801.1:p.Cys811= | |
| ENST00000689796.1:c.2094C>T | ENSP00000509716.1:p.Cys698= | |
| ENST00000689801.1:c.2202C>T | ENSP00000509982.1:p.Cys734= | |
| ENST00000689871.1:c.2202C>T | ENSP00000510412.1:p.Cys734= | |
| ENST00000690209.1:c.2256C>T | ENSP00000509005.1:p.Cys752= | |
| ENST00000690617.1:n.2370C>T | ||
| ENST00000690657.1:c.573C>T | ENSP00000510699.1:p.Cys191= | |
| ENST00000690663.1:c.2046C>T | ENSP00000509297.1:p.Cys682= | |
| ENST00000690677.1:c.*1593C>T | ENSP00000510036.1:n.*1593C>T | |
| ENST00000690723.1:c.2256C>T | ENSP00000508811.1:p.Cys752= | |
| ENST00000690862.1:c.2202C>T | ENSP00000509210.1:p.Cys734= | |
| ENST00000691148.1:n.2900C>T | ||
| ENST00000691360.1:c.*1859C>T | ENSP00000510040.1:n.*1859C>T | |
| ENST00000691583.1:c.2202C>T | ENSP00000510741.1:p.Cys734= | |
| ENST00000691641.1:c.*1981C>T | ENSP00000509350.1:n.*1981C>T | |
| ENST00000691705.1:c.2256C>T | ENSP00000510077.1:p.Cys752= | |
| ENST00000691733.1:c.2256C>T | ENSP00000509735.1:p.Cys752= | |
| ENST00000691770.1:c.2202C>T | ENSP00000510126.1:p.Cys734= | |
| ENST00000691964.1:c.2202C>T | ENSP00000509094.1:p.Cys734= | |
| ENST00000692228.1:c.*1330C>T | ENSP00000508464.1:n.*1330C>T | |
| ENST00000692242.1:c.2433C>T | ENSP00000509878.1:p.Cys811= | |
| ENST00000692321.1:c.1752C>T | ENSP00000508614.1:p.Cys584= | |
| ENST00000692391.1:c.2256C>T | ENSP00000509211.1:p.Cys752= | |
| ENST00000692508.1:n.3080C>T | ||
| ENST00000692728.1:c.1752C>T | ENSP00000510105.1:p.Cys584= | |
| ENST00000692901.1:c.2025C>T | ENSP00000510339.1:p.Cys675= | |
| ENST00000692929.1:n.1287C>T | ||
| ENST00000692985.1:c.*2068C>T | ENSP00000510460.1:n.*2068C>T | |
| ENST00000693114.1:c.*1267C>T | ENSP00000508738.1:n.*1267C>T | |
| ENST00000693129.1:c.2379C>T | ENSP00000509806.1:p.Cys793= | |
| ENST00000693162.1:c.2256C>T | ENSP00000509103.1:p.Cys752= | |
| ENST00000693233.1:c.1806C>T | ENSP00000509186.1:p.Cys602= | |
| ENST00000693489.1:c.2370C>T | ENSP00000509656.1:p.Cys790= | |
| ENST00000693588.1:c.2100C>T | ENSP00000509216.1:p.Cys700= | |
| ENST00000693654.1:n.2670C>T | ||
| ENST00000348417.7:c.2433C>T MANE Select | ENSP00000324005.4:p.Cys811= | |
| ENST00000296266.7:c.2586C>T | ENSP00000296266.3:p.Cys862= | |
| ENST00000347300.6:c.2256C>T | ENSP00000323973.3:p.Cys752= | |
| ENST00000348417.6:c.2433C>T | ENSP00000324005.3:p.Cys811= | |
| ENST00000349441.6:c.2100C>T | ENSP00000324165.3:p.Cys700= | |
| ENST00000431818.6:c.1983C>T | ENSP00000410946.2:p.Cys661= | |
| ENST00000440957.6:c.1806C>T | ENSP00000401569.2:p.Cys602= | |
| ENST00000504021.5:c.2061C>T | ENSP00000422179.1:p.Cys687= | |
| ENST00000506507.5:n.2216C>T | ||
| ENST00000507564.5:c.2409C>T | ENSP00000425536.1:p.Cys803= | |
| ENST00000509522.5:c.924C>T | ENSP00000424727.1:p.Cys308= | |
| ENST00000511425.5:n.842C>T | ||
| ENST00000512220.5:c.*2341C>T | ENSP00000421953.1:n.*2341C>T | |
| ENST00000513932.1:n.383C>T | ||
| NM_001280541.1:c.2409C>T | NP_001267470.1:p.Cys803= | |
| NM_001280545.1:c.1983C>T | NP_001267474.1:p.Cys661= | |
| NM_001280546.1:c.1806C>T | NP_001267475.1:p.Cys602= | |
| NM_018262.3:c.2256C>T | NP_060732.2:p.Cys752= | |
| NM_052985.3:c.2586C>T | NP_443711.2:p.Cys862= | |
| NM_052989.2:c.2433C>T | NP_443715.1:p.Cys811= | |
| NM_052990.2:c.2100C>T | NP_443716.1:p.Cys700= | |
| XM_005247609.1:c.2256C>T | XP_005247666.1:p.Cys752= | |
| XM_006713689.1:c.2433C>T | XP_006713752.1:p.Cys811= | |
| XM_006713691.2:c.2379C>T | XP_006713754.1:p.Cys793= | |
| XM_006713692.2:c.2202C>T | XP_006713755.1:p.Cys734= | |
| XM_006713695.2:c.2433C>T | XP_006713758.1:p.Cys811= | |
| XM_011512967.1:c.2277C>T | XP_011511269.1:p.Cys759= | |
| XM_011512968.1:c.1983C>T | XP_011511270.1:p.Cys661= | |
| XM_011512969.1:c.1983C>T | XP_011511271.1:p.Cys661= | |
| XM_011512970.1:c.1983C>T | XP_011511272.1:p.Cys661= | |
| XM_011512971.1:c.1806C>T | XP_011511273.1:p.Cys602= | |
| XM_011512972.1:c.2433C>T | XP_011511274.1:p.Cys811= | |
| XM_011512973.1:c.1029C>T | XP_011511275.1:p.Cys343= | |
| XM_005247609.2:c.2256C>T | XP_005247666.1:p.Cys752= | |
| XM_006713689.2:c.2433C>T | XP_006713752.1:p.Cys811= | |
| XM_006713691.3:c.2379C>T | XP_006713754.1:p.Cys793= | |
| XM_006713692.3:c.2202C>T | XP_006713755.1:p.Cys734= | |
| XM_006713695.3:c.2433C>T | XP_006713758.1:p.Cys811= | |
| XM_011512972.3:c.2433C>T | XP_011511274.1:p.Cys811= | |
| XM_017006817.2:c.2433C>T | XP_016862306.1:p.Cys811= | |
| XM_017006818.2:c.2433C>T | XP_016862307.1:p.Cys811= | |
| XM_017006819.2:c.2379C>T | XP_016862308.1:p.Cys793= | |
| XM_017006820.2:c.2379C>T | XP_016862309.1:p.Cys793= | |
| XM_017006821.2:c.2379C>T | XP_016862310.1:p.Cys793= | |
| XM_017006822.2:c.2277C>T | XP_016862311.1:p.Cys759= | |
| XM_017006823.2:c.2256C>T | XP_016862312.1:p.Cys752= | |
| XM_017006824.2:c.2256C>T | XP_016862313.1:p.Cys752= | |
| XM_017006825.2:c.2202C>T | XP_016862314.1:p.Cys734= | |
| XM_017006826.2:c.2202C>T | XP_016862315.1:p.Cys734= | |
| XM_017006827.2:c.2202C>T | XP_016862316.1:p.Cys734= | |
| XM_017006828.2:c.2100C>T | XP_016862317.1:p.Cys700= | |
| XM_017006829.2:c.2100C>T | XP_016862318.1:p.Cys700= | |
| XM_017006830.2:c.1983C>T | XP_016862319.1:p.Cys661= | |
| XM_017006831.1:c.1983C>T | XP_016862320.1:p.Cys661= | |
| XM_017006832.1:c.1983C>T | XP_016862321.1:p.Cys661= | |
| XM_017006833.2:c.2046C>T | XP_016862322.1:p.Cys682= | |
| XM_017006834.2:c.2046C>T | XP_016862323.1:p.Cys682= | |
| XM_017006835.1:c.1806C>T | XP_016862324.1:p.Cys602= | |
| XM_017006836.2:c.1752C>T | XP_016862325.1:p.Cys584= | |
| XM_017006837.1:c.1029C>T | XP_016862326.1:p.Cys343= | |
| XM_017006838.2:c.1029C>T | XP_016862327.1:p.Cys343= | |
| XM_024453639.1:c.1476C>T | XP_024309407.1:p.Cys492= | |
| NM_001280541.2:c.2409C>T | NP_001267470.1:p.Cys803= | |
| NM_018262.4:c.2256C>T | NP_060732.2:p.Cys752= | |
| NM_052985.4:c.2586C>T | NP_443711.2:p.Cys862= | |
| NM_052989.3:c.2433C>T MANE Select | NP_443715.1:p.Cys811= | |
| NM_052990.3:c.2100C>T | NP_443716.1:p.Cys700= | |
| NM_001280545.2:c.1983C>T | NP_001267474.1:p.Cys661= | |
| NM_001280546.2:c.1806C>T | NP_001267475.1:p.Cys602= |