Linked Data
ClinVar Variation Id:
343255
ClinVar RCV Id:
RCV000275833
dbSNP Id:
rs201077232
ExAC:
3:129223191 G / A
gnomAD v2:
3-129223191-G-A
gnomAD v3:
3-129504348-G-A
gnomAD v4:
3-129504348-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129504348G>A , CM000665.2:g.129504348G>A | GRCh38 |
| NC_000003.11:g.129223191G>A , CM000665.1:g.129223191G>A | GRCh37 |
| NC_000003.10:g.130705881G>A | NCBI36 |
| NG_023392.1:g.69224G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431818.8:c.*1787G>A | ENSP00000410946.3:n.*1787G>A | |
| ENST00000440957.7:c.*1898G>A | ENSP00000401569.3:n.*1898G>A | |
| ENST00000504021.6:c.2190G>A | ENSP00000422179.2:p.Glu730= | |
| ENST00000507221.2:c.663G>A | ENSP00000427515.2:p.Glu221= | |
| ENST00000513932.2:n.867G>A | ||
| ENST00000515783.6:c.2082G>A | ENSP00000423288.2:p.Glu694= | |
| ENST00000685087.1:c.2133G>A | ENSP00000509245.1:p.Glu711= | |
| ENST00000685122.1:c.663G>A | ENSP00000510278.1:p.Glu221= | |
| ENST00000685189.1:c.*2308G>A | ENSP00000510418.1:n.*2308G>A | |
| ENST00000685282.1:c.2547+1466G>A | ENSP00000508642.1:n.2547+1466G>A | |
| ENST00000685447.1:c.2316+1466G>A | ENSP00000509155.1:n.2316+1466G>A | |
| ENST00000685512.1:n.3124G>A | ||
| ENST00000685811.1:n.3315G>A | ||
| ENST00000685921.1:c.2289G>A | ENSP00000509914.1:p.Glu763= | |
| ENST00000685939.1:c.*997G>A | ENSP00000509414.1:n.*997G>A | |
| ENST00000686375.1:c.*997G>A | ENSP00000510777.1:n.*997G>A | |
| ENST00000686473.1:c.2235G>A | ENSP00000508526.1:p.Glu745= | |
| ENST00000686531.1:c.2181G>A | ENSP00000510570.1:p.Glu727= | |
| ENST00000686830.1:c.2238G>A | ENSP00000510002.1:p.Glu746= | |
| ENST00000687377.1:c.2523G>A | ENSP00000509225.1:p.Glu841= | |
| ENST00000687398.1:c.*2035G>A | ENSP00000510191.1:n.*2035G>A | |
| ENST00000687461.1:n.2939G>A | ||
| ENST00000687645.1:c.2577G>A | ENSP00000510672.1:p.Glu859= | |
| ENST00000687766.1:c.1896G>A | ENSP00000509886.1:p.Glu632= | |
| ENST00000687791.1:c.2346G>A | ENSP00000509224.1:p.Glu782= | |
| ENST00000687845.1:c.2160+1466G>A | ENSP00000508687.1:n.2160+1466G>A | |
| ENST00000687864.1:n.2597G>A | ||
| ENST00000688020.1:c.2421G>A | ENSP00000508904.1:p.Glu807= | |
| ENST00000688129.1:c.*2179G>A | ENSP00000509382.1:n.*2179G>A | |
| ENST00000688266.1:n.2185G>A | ||
| ENST00000688392.1:n.2988G>A | ||
| ENST00000688504.1:n.2543G>A | ||
| ENST00000688527.1:c.717G>A | ENSP00000508740.1:p.Glu239= | |
| ENST00000688657.1:c.555G>A | ENSP00000508933.1:p.Glu185= | |
| ENST00000688664.1:c.*1825G>A | ENSP00000510359.1:n.*1825G>A | |
| ENST00000688970.1:n.2781G>A | ||
| ENST00000689005.1:c.2097G>A | ENSP00000510168.1:p.Glu699= | |
| ENST00000689313.1:c.2553G>A | ENSP00000509012.1:p.Glu851= | |
| ENST00000689332.1:c.2400G>A | ENSP00000510425.1:p.Glu800= | |
| ENST00000689384.1:n.3144G>A | ||
| ENST00000689492.1:c.2253G>A | ENSP00000510239.1:p.Glu751= | |
| ENST00000689643.1:c.2577G>A | ENSP00000509801.1:p.Glu859= | |
| ENST00000689796.1:c.2238G>A | ENSP00000509716.1:p.Glu746= | |
| ENST00000689801.1:c.2346G>A | ENSP00000509982.1:p.Glu782= | |
| ENST00000689871.1:c.2346G>A | ENSP00000510412.1:p.Glu782= | |
| ENST00000690209.1:c.2400G>A | ENSP00000509005.1:p.Glu800= | |
| ENST00000690617.1:n.2514G>A | ||
| ENST00000690657.1:c.717G>A | ENSP00000510699.1:p.Glu239= | |
| ENST00000690663.1:c.2190G>A | ENSP00000509297.1:p.Glu730= | |
| ENST00000690677.1:c.*1737G>A | ENSP00000510036.1:n.*1737G>A | |
| ENST00000690723.1:c.2400G>A | ENSP00000508811.1:p.Glu800= | |
| ENST00000690862.1:c.2346G>A | ENSP00000509210.1:p.Glu782= | |
| ENST00000691148.1:n.3044G>A | ||
| ENST00000691360.1:c.*2003G>A | ENSP00000510040.1:n.*2003G>A | |
| ENST00000691583.1:c.2346G>A | ENSP00000510741.1:p.Glu782= | |
| ENST00000691641.1:c.*2125G>A | ENSP00000509350.1:n.*2125G>A | |
| ENST00000691705.1:c.2400G>A | ENSP00000510077.1:p.Glu800= | |
| ENST00000691733.1:c.2400G>A | ENSP00000509735.1:p.Glu800= | |
| ENST00000691770.1:c.2346G>A | ENSP00000510126.1:p.Glu782= | |
| ENST00000691964.1:c.2346G>A | ENSP00000509094.1:p.Glu782= | |
| ENST00000692228.1:c.*1474G>A | ENSP00000508464.1:n.*1474G>A | |
| ENST00000692242.1:c.2577G>A | ENSP00000509878.1:p.Glu859= | |
| ENST00000692321.1:c.1896G>A | ENSP00000508614.1:p.Glu632= | |
| ENST00000692391.1:c.2400G>A | ENSP00000509211.1:p.Glu800= | |
| ENST00000692508.1:n.3224G>A | ||
| ENST00000692728.1:c.1896G>A | ENSP00000510105.1:p.Glu632= | |
| ENST00000692901.1:c.2169G>A | ENSP00000510339.1:p.Glu723= | |
| ENST00000692929.1:n.1431G>A | ||
| ENST00000692985.1:c.*2212G>A | ENSP00000510460.1:n.*2212G>A | |
| ENST00000693114.1:c.*1411G>A | ENSP00000508738.1:n.*1411G>A | |
| ENST00000693129.1:c.2523G>A | ENSP00000509806.1:p.Glu841= | |
| ENST00000693162.1:c.2400G>A | ENSP00000509103.1:p.Glu800= | |
| ENST00000693233.1:c.1950G>A | ENSP00000509186.1:p.Glu650= | |
| ENST00000693489.1:c.2514G>A | ENSP00000509656.1:p.Glu838= | |
| ENST00000693588.1:c.2244G>A | ENSP00000509216.1:p.Glu748= | |
| ENST00000693654.1:n.2814G>A | ||
| ENST00000348417.7:c.2577G>A MANE Select | ENSP00000324005.4:p.Glu859= | |
| ENST00000296266.7:c.2730G>A | ENSP00000296266.3:p.Glu910= | |
| ENST00000347300.6:c.2400G>A | ENSP00000323973.3:p.Glu800= | |
| ENST00000348417.6:c.2577G>A | ENSP00000324005.3:p.Glu859= | |
| ENST00000349441.6:c.2244G>A | ENSP00000324165.3:p.Glu748= | |
| ENST00000431818.6:c.2127G>A | ENSP00000410946.2:p.Glu709= | |
| ENST00000440957.6:c.1950G>A | ENSP00000401569.2:p.Glu650= | |
| ENST00000504021.5:c.2205G>A | ENSP00000422179.1:p.Glu735= | |
| ENST00000506507.5:n.2360G>A | ||
| ENST00000507564.5:c.2553G>A | ENSP00000425536.1:p.Glu851= | |
| ENST00000509522.5:c.1068G>A | ENSP00000424727.1:p.Glu356= | |
| ENST00000511425.5:n.986G>A | ||
| ENST00000512220.5:c.*2485G>A | ENSP00000421953.1:n.*2485G>A | |
| NM_001280541.1:c.2553G>A | NP_001267470.1:p.Glu851= | |
| NM_001280545.1:c.2127G>A | NP_001267474.1:p.Glu709= | |
| NM_001280546.1:c.1950G>A | NP_001267475.1:p.Glu650= | |
| NM_018262.3:c.2400G>A | NP_060732.2:p.Glu800= | |
| NM_052985.3:c.2730G>A | NP_443711.2:p.Glu910= | |
| NM_052989.2:c.2577G>A | NP_443715.1:p.Glu859= | |
| NM_052990.2:c.2244G>A | NP_443716.1:p.Glu748= | |
| XM_005247609.1:c.2400G>A | XP_005247666.1:p.Glu800= | |
| XM_006713689.1:c.2577G>A | XP_006713752.1:p.Glu859= | |
| XM_006713691.2:c.2523G>A | XP_006713754.1:p.Glu841= | |
| XM_006713692.2:c.2346G>A | XP_006713755.1:p.Glu782= | |
| XM_011512967.1:c.2421G>A | XP_011511269.1:p.Glu807= | |
| XM_011512968.1:c.2127G>A | XP_011511270.1:p.Glu709= | |
| XM_011512969.1:c.2127G>A | XP_011511271.1:p.Glu709= | |
| XM_011512970.1:c.2127G>A | XP_011511272.1:p.Glu709= | |
| XM_011512971.1:c.1950G>A | XP_011511273.1:p.Glu650= | |
| XM_011512972.1:c.2577G>A | XP_011511274.1:p.Glu859= | |
| XM_011512973.1:c.1173G>A | XP_011511275.1:p.Glu391= | |
| XM_005247609.2:c.2400G>A | XP_005247666.1:p.Glu800= | |
| XM_006713689.2:c.2577G>A | XP_006713752.1:p.Glu859= | |
| XM_006713691.3:c.2523G>A | XP_006713754.1:p.Glu841= | |
| XM_006713692.3:c.2346G>A | XP_006713755.1:p.Glu782= | |
| XM_011512972.3:c.2577G>A | XP_011511274.1:p.Glu859= | |
| XM_017006817.2:c.2577G>A | XP_016862306.1:p.Glu859= | |
| XM_017006818.2:c.2577G>A | XP_016862307.1:p.Glu859= | |
| XM_017006819.2:c.2523G>A | XP_016862308.1:p.Glu841= | |
| XM_017006820.2:c.2523G>A | XP_016862309.1:p.Glu841= | |
| XM_017006821.2:c.2523G>A | XP_016862310.1:p.Glu841= | |
| XM_017006822.2:c.2421G>A | XP_016862311.1:p.Glu807= | |
| XM_017006823.2:c.2400G>A | XP_016862312.1:p.Glu800= | |
| XM_017006824.2:c.2400G>A | XP_016862313.1:p.Glu800= | |
| XM_017006825.2:c.2346G>A | XP_016862314.1:p.Glu782= | |
| XM_017006826.2:c.2346G>A | XP_016862315.1:p.Glu782= | |
| XM_017006827.2:c.2346G>A | XP_016862316.1:p.Glu782= | |
| XM_017006828.2:c.2244G>A | XP_016862317.1:p.Glu748= | |
| XM_017006829.2:c.2244G>A | XP_016862318.1:p.Glu748= | |
| XM_017006830.2:c.2127G>A | XP_016862319.1:p.Glu709= | |
| XM_017006831.1:c.2127G>A | XP_016862320.1:p.Glu709= | |
| XM_017006832.1:c.2127G>A | XP_016862321.1:p.Glu709= | |
| XM_017006833.2:c.2190G>A | XP_016862322.1:p.Glu730= | |
| XM_017006834.2:c.2190G>A | XP_016862323.1:p.Glu730= | |
| XM_017006835.1:c.1950G>A | XP_016862324.1:p.Glu650= | |
| XM_017006836.2:c.1896G>A | XP_016862325.1:p.Glu632= | |
| XM_017006837.1:c.1173G>A | XP_016862326.1:p.Glu391= | |
| XM_017006838.2:c.1173G>A | XP_016862327.1:p.Glu391= | |
| XM_024453639.1:c.1620G>A | XP_024309407.1:p.Glu540= | |
| NM_001280541.2:c.2553G>A | NP_001267470.1:p.Glu851= | |
| NM_018262.4:c.2400G>A | NP_060732.2:p.Glu800= | |
| NM_052985.4:c.2730G>A | NP_443711.2:p.Glu910= | |
| NM_052989.3:c.2577G>A MANE Select | NP_443715.1:p.Glu859= | |
| NM_052990.3:c.2244G>A | NP_443716.1:p.Glu748= | |
| NM_001280545.2:c.2127G>A | NP_001267474.1:p.Glu709= | |
| NM_001280546.2:c.1950G>A | NP_001267475.1:p.Glu650= |