Linked Data
ClinVar Variation Id:
196634
ClinVar RCV Id:
RCV000177477
dbSNP Id:
rs794727536
gnomAD v4:
3-129519642-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129519642C>T , CM000665.2:g.129519642C>T | GRCh38 |
| NC_000003.11:g.129238485C>T , CM000665.1:g.129238485C>T | GRCh37 |
| NC_000003.10:g.130721175C>T | NCBI36 |
| NG_023392.1:g.84518C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431818.8:c.*2808C>T | ENSP00000410946.3:n.*2808C>T | |
| ENST00000440957.7:c.*2867C>T | ENSP00000401569.3:n.*2867C>T | |
| ENST00000504021.6:c.3162C>T | ENSP00000422179.2:p.Leu1054= | |
| ENST00000504444.2:n.2489C>T | ||
| ENST00000507221.2:c.1632C>T | ENSP00000427515.2:p.Leu544= | |
| ENST00000513932.2:n.1839C>T | ||
| ENST00000515783.6:c.3051C>T | ENSP00000423288.2:p.Leu1017= | |
| ENST00000685087.1:c.*106C>T | ENSP00000509245.1:n.*106C>T | |
| ENST00000685122.1:c.1635C>T | ENSP00000510278.1:p.Leu545= | |
| ENST00000685189.1:c.*3277C>T | ENSP00000510418.1:n.*3277C>T | |
| ENST00000685282.1:c.*764C>T | ENSP00000508642.1:n.*764C>T | |
| ENST00000685447.1:c.*666C>T | ENSP00000509155.1:n.*666C>T | |
| ENST00000685512.1:n.4349C>T | ||
| ENST00000685621.1:n.2727C>T | ||
| ENST00000685811.1:n.4287C>T | ||
| ENST00000685921.1:c.3258C>T | ENSP00000509914.1:p.Leu1086= | |
| ENST00000685939.1:c.*1966C>T | ENSP00000509414.1:n.*1966C>T | |
| ENST00000686375.1:c.*1987C>T | ENSP00000510777.1:n.*1987C>T | |
| ENST00000686473.1:c.3204C>T | ENSP00000508526.1:p.Leu1068= | |
| ENST00000686531.1:c.3150C>T | ENSP00000510570.1:p.Leu1050= | |
| ENST00000686614.1:n.2262C>T | ||
| ENST00000686830.1:c.3207C>T | ENSP00000510002.1:p.Leu1069= | |
| ENST00000687377.1:c.3495C>T | ENSP00000509225.1:p.Leu1165= | |
| ENST00000687398.1:c.*3004C>T | ENSP00000510191.1:n.*3004C>T | |
| ENST00000687461.1:n.3908C>T | ||
| ENST00000687645.1:c.*487C>T | ENSP00000510672.1:n.*487C>T | |
| ENST00000687766.1:c.*1138C>T | ENSP00000509886.1:n.*1138C>T | |
| ENST00000687791.1:c.*631C>T | ENSP00000509224.1:n.*631C>T | |
| ENST00000687845.1:c.3056C>T | ENSP00000508687.1:n.3056C>T | |
| ENST00000687864.1:n.4499C>T | ||
| ENST00000688020.1:c.3390C>T | ENSP00000508904.1:p.Leu1130= | |
| ENST00000688129.1:c.*3148C>T | ENSP00000509382.1:n.*3148C>T | |
| ENST00000688266.1:n.3059C>T | ||
| ENST00000688392.1:n.3960C>T | ||
| ENST00000688504.1:n.4445C>T | ||
| ENST00000688527.1:c.1689C>T | ENSP00000508740.1:p.Leu563= | |
| ENST00000688657.1:c.1524C>T | ENSP00000508933.1:p.Leu508= | |
| ENST00000688664.1:c.*2794C>T | ENSP00000510359.1:n.*2794C>T | |
| ENST00000688765.1:n.1255C>T | ||
| ENST00000689005.1:c.3069C>T | ENSP00000510168.1:p.Leu1023= | |
| ENST00000689313.1:c.3522C>T | ENSP00000509012.1:p.Leu1174= | |
| ENST00000689332.1:c.3372C>T | ENSP00000510425.1:p.Leu1124= | |
| ENST00000689384.1:n.4113C>T | ||
| ENST00000689492.1:c.3222C>T | ENSP00000510239.1:p.Leu1074= | |
| ENST00000689643.1:c.3546C>T | ENSP00000509801.1:p.Leu1182= | |
| ENST00000689796.1:c.3210C>T | ENSP00000509716.1:p.Leu1070= | |
| ENST00000689801.1:c.3318C>T | ENSP00000509982.1:p.Leu1106= | |
| ENST00000689871.1:c.*462C>T | ENSP00000510412.1:n.*462C>T | |
| ENST00000689884.1:n.2533C>T | ||
| ENST00000690209.1:c.*106C>T | ENSP00000509005.1:n.*106C>T | |
| ENST00000690617.1:n.3483C>T | ||
| ENST00000690657.1:c.1686C>T | ENSP00000510699.1:p.Leu562= | |
| ENST00000690663.1:c.3159C>T | ENSP00000509297.1:p.Leu1053= | |
| ENST00000690677.1:c.*2828C>T | ENSP00000510036.1:n.*2828C>T | |
| ENST00000690723.1:c.*631C>T | ENSP00000508811.1:n.*631C>T | |
| ENST00000690800.1:n.469C>T | ||
| ENST00000690862.1:c.3315C>T | ENSP00000509210.1:p.Leu1105= | |
| ENST00000691148.1:n.4013C>T | ||
| ENST00000691360.1:c.*2972C>T | ENSP00000510040.1:n.*2972C>T | |
| ENST00000691583.1:c.3315C>T | ENSP00000510741.1:p.Leu1105= | |
| ENST00000691641.1:c.*3094C>T | ENSP00000509350.1:n.*3094C>T | |
| ENST00000691705.1:c.*106C>T | ENSP00000510077.1:n.*106C>T | |
| ENST00000691733.1:c.3369C>T | ENSP00000509735.1:p.Leu1123= | |
| ENST00000691770.1:c.*898C>T | ENSP00000510126.1:n.*898C>T | |
| ENST00000691964.1:c.3312C>T | ENSP00000509094.1:p.Leu1104= | |
| ENST00000692228.1:c.*2443C>T | ENSP00000508464.1:n.*2443C>T | |
| ENST00000692242.1:c.3549C>T | ENSP00000509878.1:p.Leu1183= | |
| ENST00000692321.1:c.2865C>T | ENSP00000508614.1:p.Leu955= | |
| ENST00000692391.1:c.*557C>T | ENSP00000509211.1:n.*557C>T | |
| ENST00000692508.1:n.4193C>T | ||
| ENST00000692728.1:c.2865C>T | ENSP00000510105.1:p.Leu955= | |
| ENST00000692901.1:c.3138C>T | ENSP00000510339.1:p.Leu1046= | |
| ENST00000692929.1:n.2400C>T | ||
| ENST00000692985.1:c.*3086C>T | ENSP00000510460.1:n.*3086C>T | |
| ENST00000693114.1:c.*2383C>T | ENSP00000508738.1:n.*2383C>T | |
| ENST00000693129.1:c.3492C>T | ENSP00000509806.1:p.Leu1164= | |
| ENST00000693162.1:c.*557C>T | ENSP00000509103.1:n.*557C>T | |
| ENST00000693233.1:c.2919C>T | ENSP00000509186.1:p.Leu973= | |
| ENST00000693489.1:c.3483C>T | ENSP00000509656.1:p.Leu1161= | |
| ENST00000693588.1:c.3213C>T | ENSP00000509216.1:p.Leu1071= | |
| ENST00000693654.1:n.3783C>T | ||
| ENST00000348417.7:c.3546C>T MANE Select | ENSP00000324005.4:p.Leu1182= | |
| ENST00000296266.7:c.3699C>T | ENSP00000296266.3:p.Leu1233= | |
| ENST00000347300.6:c.3369C>T | ENSP00000323973.3:p.Leu1123= | |
| ENST00000348417.6:c.3546C>T | ENSP00000324005.3:p.Leu1182= | |
| ENST00000349441.6:c.3216C>T | ENSP00000324165.3:p.Leu1072= | |
| ENST00000431818.6:c.3096C>T | ENSP00000410946.2:p.Leu1032= | |
| ENST00000440957.6:c.2919C>T | ENSP00000401569.2:p.Leu973= | |
| ENST00000504021.5:c.3177C>T | ENSP00000422179.1:p.Leu1059= | |
| ENST00000506507.5:n.4262C>T | ||
| ENST00000507564.5:c.3525C>T | ENSP00000425536.1:p.Leu1175= | |
| ENST00000511425.5:n.1955C>T | ||
| ENST00000512220.5:c.*3454C>T | ENSP00000421953.1:n.*3454C>T | |
| ENST00000513190.1:n.2590C>T | ||
| NM_001280541.1:c.3525C>T | NP_001267470.1:p.Leu1175= | |
| NM_001280545.1:c.3096C>T | NP_001267474.1:p.Leu1032= | |
| NM_001280546.1:c.2919C>T | NP_001267475.1:p.Leu973= | |
| NM_018262.3:c.3369C>T | NP_060732.2:p.Leu1123= | |
| NM_052985.3:c.3699C>T | NP_443711.2:p.Leu1233= | |
| NM_052989.2:c.3546C>T | NP_443715.1:p.Leu1182= | |
| NM_052990.2:c.3216C>T | NP_443716.1:p.Leu1072= | |
| XM_005247609.1:c.3372C>T | XP_005247666.1:p.Leu1124= | |
| XM_006713689.1:c.3549C>T | XP_006713752.1:p.Leu1183= | |
| XM_006713691.2:c.3495C>T | XP_006713754.1:p.Leu1165= | |
| XM_006713692.2:c.3318C>T | XP_006713755.1:p.Leu1106= | |
| XM_011512967.1:c.3393C>T | XP_011511269.1:p.Leu1131= | |
| XM_011512968.1:c.3099C>T | XP_011511270.1:p.Leu1033= | |
| XM_011512969.1:c.3099C>T | XP_011511271.1:p.Leu1033= | |
| XM_011512970.1:c.3099C>T | XP_011511272.1:p.Leu1033= | |
| XM_011512971.1:c.2922C>T | XP_011511273.1:p.Leu974= | |
| XM_011512973.1:c.2145C>T | XP_011511275.1:p.Leu715= | |
| XM_005247609.2:c.3372C>T | XP_005247666.1:p.Leu1124= | |
| XM_006713689.2:c.3549C>T | XP_006713752.1:p.Leu1183= | |
| XM_006713691.3:c.3495C>T | XP_006713754.1:p.Leu1165= | |
| XM_006713692.3:c.3318C>T | XP_006713755.1:p.Leu1106= | |
| XM_017006817.2:c.3549C>T | XP_016862306.1:p.Leu1183= | |
| XM_017006818.2:c.3546C>T | XP_016862307.1:p.Leu1182= | |
| XM_017006819.2:c.3495C>T | XP_016862308.1:p.Leu1165= | |
| XM_017006820.2:c.3492C>T | XP_016862309.1:p.Leu1164= | |
| XM_017006821.2:c.3492C>T | XP_016862310.1:p.Leu1164= | |
| XM_017006822.2:c.3393C>T | XP_016862311.1:p.Leu1131= | |
| XM_017006823.2:c.3372C>T | XP_016862312.1:p.Leu1124= | |
| XM_017006824.2:c.3369C>T | XP_016862313.1:p.Leu1123= | |
| XM_017006825.2:c.3318C>T | XP_016862314.1:p.Leu1106= | |
| XM_017006826.2:c.3315C>T | XP_016862315.1:p.Leu1105= | |
| XM_017006827.2:c.3315C>T | XP_016862316.1:p.Leu1105= | |
| XM_017006828.2:c.3216C>T | XP_016862317.1:p.Leu1072= | |
| XM_017006829.2:c.3213C>T | XP_016862318.1:p.Leu1071= | |
| XM_017006830.2:c.3099C>T | XP_016862319.1:p.Leu1033= | |
| XM_017006831.1:c.3099C>T | XP_016862320.1:p.Leu1033= | |
| XM_017006832.1:c.3099C>T | XP_016862321.1:p.Leu1033= | |
| XM_017006833.2:c.3162C>T | XP_016862322.1:p.Leu1054= | |
| XM_017006834.2:c.3159C>T | XP_016862323.1:p.Leu1053= | |
| XM_017006835.1:c.2922C>T | XP_016862324.1:p.Leu974= | |
| XM_017006836.2:c.2868C>T | XP_016862325.1:p.Leu956= | |
| XM_017006837.1:c.2145C>T | XP_016862326.1:p.Leu715= | |
| XM_017006838.2:c.2142C>T | XP_016862327.1:p.Leu714= | |
| XM_024453639.1:c.2592C>T | XP_024309407.1:p.Leu864= | |
| NM_001280541.2:c.3525C>T | NP_001267470.1:p.Leu1175= | |
| NM_018262.4:c.3369C>T | NP_060732.2:p.Leu1123= | |
| NM_052985.4:c.3699C>T | NP_443711.2:p.Leu1233= | |
| NM_052989.3:c.3546C>T MANE Select | NP_443715.1:p.Leu1182= | |
| NM_052990.3:c.3216C>T | NP_443716.1:p.Leu1072= | |
| NM_001280545.2:c.3096C>T | NP_001267474.1:p.Leu1032= | |
| NM_001280546.2:c.2919C>T | NP_001267475.1:p.Leu973= |