Linked Data
ClinVar Variation Id:
262266
dbSNP Id:
rs79187669
ExAC:
3:129195523 C / T
gnomAD v2:
3-129195523-C-T
gnomAD v3:
3-129476680-C-T
gnomAD v4:
3-129476680-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129476680C>T , CM000665.2:g.129476680C>T | GRCh38 |
| NC_000003.11:g.129195523C>T , CM000665.1:g.129195523C>T | GRCh37 |
| NC_000003.10:g.130678213C>T | NCBI36 |
| NG_023392.1:g.41556C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431818.8:c.*236C>T | ENSP00000410946.3:n.*236C>T | |
| ENST00000440957.7:c.*347C>T | ENSP00000401569.3:n.*347C>T | |
| ENST00000504021.6:c.693C>T | ENSP00000422179.2:p.Asp231= | |
| ENST00000512157.6:c.1026C>T | ENSP00000424206.2:p.Asp342= | |
| ENST00000515783.6:c.693C>T | ENSP00000423288.2:p.Asp231= | |
| ENST00000685087.1:c.582C>T | ENSP00000509245.1:p.Asp194= | |
| ENST00000685189.1:c.*757C>T | ENSP00000510418.1:n.*757C>T | |
| ENST00000685282.1:c.1026C>T | ENSP00000508642.1:p.Asp342= | |
| ENST00000685447.1:c.849C>T | ENSP00000509155.1:p.Asp283= | |
| ENST00000685811.1:n.1818C>T | ||
| ENST00000685921.1:c.738C>T | ENSP00000509914.1:p.Asp246= | |
| ENST00000685939.1:c.849C>T | ENSP00000509414.1:p.Asp283= | |
| ENST00000686375.1:c.849C>T | ENSP00000510777.1:p.Asp283= | |
| ENST00000686473.1:c.738C>T | ENSP00000508526.1:p.Asp246= | |
| ENST00000686531.1:c.693C>T | ENSP00000510570.1:p.Asp231= | |
| ENST00000686830.1:c.849C>T | ENSP00000510002.1:p.Asp283= | |
| ENST00000687377.1:c.1026C>T | ENSP00000509225.1:p.Asp342= | |
| ENST00000687398.1:c.*484C>T | ENSP00000510191.1:n.*484C>T | |
| ENST00000687461.1:n.1388C>T | ||
| ENST00000687645.1:c.1026C>T | ENSP00000510672.1:p.Asp342= | |
| ENST00000687766.1:c.399C>T | ENSP00000509886.1:p.Asp133= | |
| ENST00000687791.1:c.849C>T | ENSP00000509224.1:p.Asp283= | |
| ENST00000687845.1:c.693C>T | ENSP00000508687.1:p.Asp231= | |
| ENST00000687864.1:n.1046C>T | ||
| ENST00000688020.1:c.870C>T | ENSP00000508904.1:p.Asp290= | |
| ENST00000688129.1:c.*628C>T | ENSP00000509382.1:n.*628C>T | |
| ENST00000688266.1:n.634C>T | ||
| ENST00000688392.1:n.1437C>T | ||
| ENST00000688504.1:n.1046C>T | ||
| ENST00000688664.1:c.*274C>T | ENSP00000510359.1:n.*274C>T | |
| ENST00000688970.1:n.1230C>T | ||
| ENST00000689005.1:c.546C>T | ENSP00000510168.1:p.Asp182= | |
| ENST00000689313.1:c.1002C>T | ENSP00000509012.1:p.Asp334= | |
| ENST00000689332.1:c.849C>T | ENSP00000510425.1:p.Asp283= | |
| ENST00000689384.1:n.1485C>T | ||
| ENST00000689492.1:c.702C>T | ENSP00000510239.1:p.Asp234= | |
| ENST00000689643.1:c.1026C>T | ENSP00000509801.1:p.Asp342= | |
| ENST00000689796.1:c.849C>T | ENSP00000509716.1:p.Asp283= | |
| ENST00000689801.1:c.849C>T | ENSP00000509982.1:p.Asp283= | |
| ENST00000689819.1:n.1046C>T | ||
| ENST00000689871.1:c.870C>T | ENSP00000510412.1:p.Asp290= | |
| ENST00000690209.1:c.849C>T | ENSP00000509005.1:p.Asp283= | |
| ENST00000690617.1:n.963C>T | ||
| ENST00000690663.1:c.693C>T | ENSP00000509297.1:p.Asp231= | |
| ENST00000690677.1:c.*221C>T | ENSP00000510036.1:n.*221C>T | |
| ENST00000690723.1:c.849C>T | ENSP00000508811.1:p.Asp283= | |
| ENST00000690862.1:c.849C>T | ENSP00000509210.1:p.Asp283= | |
| ENST00000691360.1:c.*452C>T | ENSP00000510040.1:n.*452C>T | |
| ENST00000691583.1:c.849C>T | ENSP00000510741.1:p.Asp283= | |
| ENST00000691641.1:c.*628C>T | ENSP00000509350.1:n.*628C>T | |
| ENST00000691705.1:c.849C>T | ENSP00000510077.1:p.Asp283= | |
| ENST00000691733.1:c.849C>T | ENSP00000509735.1:p.Asp283= | |
| ENST00000691770.1:c.849C>T | ENSP00000510126.1:p.Asp283= | |
| ENST00000691964.1:c.849C>T | ENSP00000509094.1:p.Asp283= | |
| ENST00000692228.1:c.715C>T | ENSP00000508464.1:p.Arg239Trp | |
| ENST00000692242.1:c.1026C>T | ENSP00000509878.1:p.Asp342= | |
| ENST00000692321.1:c.399C>T | ENSP00000508614.1:p.Asp133= | |
| ENST00000692391.1:c.849C>T | ENSP00000509211.1:p.Asp283= | |
| ENST00000692508.1:n.1673C>T | ||
| ENST00000692728.1:c.399C>T | ENSP00000510105.1:p.Asp133= | |
| ENST00000692901.1:c.618C>T | ENSP00000510339.1:p.Asp206= | |
| ENST00000692985.1:c.849C>T | ENSP00000510460.1:p.Asp283= | |
| ENST00000693114.1:c.715C>T | ENSP00000508738.1:p.Arg239Trp | |
| ENST00000693129.1:c.1026C>T | ENSP00000509806.1:p.Asp342= | |
| ENST00000693162.1:c.849C>T | ENSP00000509103.1:p.Asp283= | |
| ENST00000693233.1:c.399C>T | ENSP00000509186.1:p.Asp133= | |
| ENST00000693489.1:c.1026C>T | ENSP00000509656.1:p.Asp342= | |
| ENST00000693588.1:c.693C>T | ENSP00000509216.1:p.Asp231= | |
| ENST00000693654.1:n.1263C>T | ||
| ENST00000348417.7:c.1026C>T MANE Select | ENSP00000324005.4:p.Asp342= | |
| ENST00000296266.7:c.1179C>T | ENSP00000296266.3:p.Asp393= | |
| ENST00000347300.6:c.849C>T | ENSP00000323973.3:p.Asp283= | |
| ENST00000348417.6:c.1026C>T | ENSP00000324005.3:p.Asp342= | |
| ENST00000349441.6:c.693C>T | ENSP00000324165.3:p.Asp231= | |
| ENST00000431818.6:c.576C>T | ENSP00000410946.2:p.Asp192= | |
| ENST00000440957.6:c.399C>T | ENSP00000401569.2:p.Asp133= | |
| ENST00000504021.5:c.708C>T | ENSP00000422179.1:p.Asp236= | |
| ENST00000506507.5:n.809C>T | ||
| ENST00000507564.5:c.1002C>T | ENSP00000425536.1:p.Asp334= | |
| ENST00000508654.1:n.386C>T | ||
| ENST00000512157.5:c.661C>T | ||
| ENST00000512220.5:c.*934C>T | ENSP00000421953.1:n.*934C>T | |
| ENST00000515783.5:c.505C>T | ||
| NM_001280541.1:c.1002C>T | NP_001267470.1:p.Asp334= | |
| NM_001280545.1:c.576C>T | NP_001267474.1:p.Asp192= | |
| NM_001280546.1:c.399C>T | NP_001267475.1:p.Asp133= | |
| NM_018262.3:c.849C>T | NP_060732.2:p.Asp283= | |
| NM_052985.3:c.1179C>T | NP_443711.2:p.Asp393= | |
| NM_052989.2:c.1026C>T | NP_443715.1:p.Asp342= | |
| NM_052990.2:c.693C>T | NP_443716.1:p.Asp231= | |
| XM_005247609.1:c.849C>T | XP_005247666.1:p.Asp283= | |
| XM_006713689.1:c.1026C>T | XP_006713752.1:p.Asp342= | |
| XM_006713691.2:c.1026C>T | XP_006713754.1:p.Asp342= | |
| XM_006713692.2:c.849C>T | XP_006713755.1:p.Asp283= | |
| XM_006713695.2:c.1026C>T | XP_006713758.1:p.Asp342= | |
| XM_011512967.1:c.870C>T | XP_011511269.1:p.Asp290= | |
| XM_011512968.1:c.576C>T | XP_011511270.1:p.Asp192= | |
| XM_011512969.1:c.576C>T | XP_011511271.1:p.Asp192= | |
| XM_011512970.1:c.576C>T | XP_011511272.1:p.Asp192= | |
| XM_011512971.1:c.399C>T | XP_011511273.1:p.Asp133= | |
| XM_011512972.1:c.1026C>T | XP_011511274.1:p.Asp342= | |
| XM_005247609.2:c.849C>T | XP_005247666.1:p.Asp283= | |
| XM_006713689.2:c.1026C>T | XP_006713752.1:p.Asp342= | |
| XM_006713691.3:c.1026C>T | XP_006713754.1:p.Asp342= | |
| XM_006713692.3:c.849C>T | XP_006713755.1:p.Asp283= | |
| XM_006713695.3:c.1026C>T | XP_006713758.1:p.Asp342= | |
| XM_011512972.3:c.1026C>T | XP_011511274.1:p.Asp342= | |
| XM_017006817.2:c.1026C>T | XP_016862306.1:p.Asp342= | |
| XM_017006818.2:c.1026C>T | XP_016862307.1:p.Asp342= | |
| XM_017006819.2:c.1026C>T | XP_016862308.1:p.Asp342= | |
| XM_017006820.2:c.1026C>T | XP_016862309.1:p.Asp342= | |
| XM_017006821.2:c.1026C>T | XP_016862310.1:p.Asp342= | |
| XM_017006822.2:c.870C>T | XP_016862311.1:p.Asp290= | |
| XM_017006823.2:c.849C>T | XP_016862312.1:p.Asp283= | |
| XM_017006824.2:c.849C>T | XP_016862313.1:p.Asp283= | |
| XM_017006825.2:c.849C>T | XP_016862314.1:p.Asp283= | |
| XM_017006826.2:c.849C>T | XP_016862315.1:p.Asp283= | |
| XM_017006827.2:c.849C>T | XP_016862316.1:p.Asp283= | |
| XM_017006828.2:c.693C>T | XP_016862317.1:p.Asp231= | |
| XM_017006829.2:c.693C>T | XP_016862318.1:p.Asp231= | |
| XM_017006830.2:c.576C>T | XP_016862319.1:p.Asp192= | |
| XM_017006831.1:c.576C>T | XP_016862320.1:p.Asp192= | |
| XM_017006832.1:c.576C>T | XP_016862321.1:p.Asp192= | |
| XM_017006833.2:c.693C>T | XP_016862322.1:p.Asp231= | |
| XM_017006834.2:c.693C>T | XP_016862323.1:p.Asp231= | |
| XM_017006835.1:c.399C>T | XP_016862324.1:p.Asp133= | |
| XM_017006836.2:c.399C>T | XP_016862325.1:p.Asp133= | |
| XM_017006837.1:c.-398C>T | XP_016862326.1:n.-398C>T | |
| XM_017006838.2:c.-398C>T | XP_016862327.1:n.-398C>T | |
| XM_024453639.1:c.69C>T | XP_024309407.1:p.Asp23= | |
| NM_001280541.2:c.1002C>T | NP_001267470.1:p.Asp334= | |
| NM_018262.4:c.849C>T | NP_060732.2:p.Asp283= | |
| NM_052985.4:c.1179C>T | NP_443711.2:p.Asp393= | |
| NM_052989.3:c.1026C>T MANE Select | NP_443715.1:p.Asp342= | |
| NM_052990.3:c.693C>T | NP_443716.1:p.Asp231= | |
| NM_001280545.2:c.576C>T | NP_001267474.1:p.Asp192= | |
| NM_001280546.2:c.399C>T | NP_001267475.1:p.Asp133= |