Linked Data
ClinVar Variation Id:
343269
ClinVar RCV Id:
RCV000269212
dbSNP Id:
rs146778076
ExAC:
3:129238509 G / T
gnomAD v2:
3-129238509-G-T
gnomAD v3:
3-129519666-G-T
gnomAD v4:
3-129519666-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129519666G>T , CM000665.2:g.129519666G>T | GRCh38 |
| NC_000003.11:g.129238509G>T , CM000665.1:g.129238509G>T | GRCh37 |
| NC_000003.10:g.130721199G>T | NCBI36 |
| NG_023392.1:g.84542G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431818.8:c.*2832G>T | ENSP00000410946.3:n.*2832G>T | |
| ENST00000440957.7:c.*2891G>T | ENSP00000401569.3:n.*2891G>T | |
| ENST00000504021.6:c.3186G>T | ENSP00000422179.2:p.Leu1062= | |
| ENST00000504444.2:n.2513G>T | ||
| ENST00000507221.2:c.1656G>T | ENSP00000427515.2:p.Leu552= | |
| ENST00000513932.2:n.1863G>T | ||
| ENST00000515783.6:c.3075G>T | ENSP00000423288.2:p.Leu1025= | |
| ENST00000685087.1:c.*130G>T | ENSP00000509245.1:n.*130G>T | |
| ENST00000685122.1:c.1659G>T | ENSP00000510278.1:p.Leu553= | |
| ENST00000685189.1:c.*3301G>T | ENSP00000510418.1:n.*3301G>T | |
| ENST00000685282.1:c.*788G>T | ENSP00000508642.1:n.*788G>T | |
| ENST00000685447.1:c.*690G>T | ENSP00000509155.1:n.*690G>T | |
| ENST00000685512.1:n.4373G>T | ||
| ENST00000685621.1:n.2751G>T | ||
| ENST00000685811.1:n.4311G>T | ||
| ENST00000685921.1:c.3282G>T | ENSP00000509914.1:p.Leu1094= | |
| ENST00000685939.1:c.*1990G>T | ENSP00000509414.1:n.*1990G>T | |
| ENST00000686375.1:c.*2011G>T | ENSP00000510777.1:n.*2011G>T | |
| ENST00000686473.1:c.3228G>T | ENSP00000508526.1:p.Leu1076= | |
| ENST00000686531.1:c.3174G>T | ENSP00000510570.1:p.Leu1058= | |
| ENST00000686614.1:n.2286G>T | ||
| ENST00000686830.1:c.3231G>T | ENSP00000510002.1:p.Leu1077= | |
| ENST00000687377.1:c.3519G>T | ENSP00000509225.1:p.Leu1173= | |
| ENST00000687398.1:c.*3028G>T | ENSP00000510191.1:n.*3028G>T | |
| ENST00000687461.1:n.3932G>T | ||
| ENST00000687645.1:c.*511G>T | ENSP00000510672.1:n.*511G>T | |
| ENST00000687766.1:c.*1162G>T | ENSP00000509886.1:n.*1162G>T | |
| ENST00000687791.1:c.*655G>T | ENSP00000509224.1:n.*655G>T | |
| ENST00000687845.1:c.3080G>T | ENSP00000508687.1:n.3080G>T | |
| ENST00000687864.1:n.4523G>T | ||
| ENST00000688020.1:c.3414G>T | ENSP00000508904.1:p.Leu1138= | |
| ENST00000688129.1:c.*3172G>T | ENSP00000509382.1:n.*3172G>T | |
| ENST00000688266.1:n.3083G>T | ||
| ENST00000688392.1:n.3984G>T | ||
| ENST00000688504.1:n.4469G>T | ||
| ENST00000688527.1:c.1713G>T | ENSP00000508740.1:p.Leu571= | |
| ENST00000688657.1:c.1548G>T | ENSP00000508933.1:p.Leu516= | |
| ENST00000688664.1:c.*2818G>T | ENSP00000510359.1:n.*2818G>T | |
| ENST00000688765.1:n.1279G>T | ||
| ENST00000689005.1:c.3093G>T | ENSP00000510168.1:p.Leu1031= | |
| ENST00000689313.1:c.3546G>T | ENSP00000509012.1:p.Leu1182= | |
| ENST00000689332.1:c.3396G>T | ENSP00000510425.1:p.Leu1132= | |
| ENST00000689384.1:n.4137G>T | ||
| ENST00000689492.1:c.3246G>T | ENSP00000510239.1:p.Leu1082= | |
| ENST00000689643.1:c.3570G>T | ENSP00000509801.1:p.Leu1190= | |
| ENST00000689796.1:c.3234G>T | ENSP00000509716.1:p.Leu1078= | |
| ENST00000689801.1:c.3342G>T | ENSP00000509982.1:p.Leu1114= | |
| ENST00000689871.1:c.*486G>T | ENSP00000510412.1:n.*486G>T | |
| ENST00000689884.1:n.2557G>T | ||
| ENST00000690209.1:c.*130G>T | ENSP00000509005.1:n.*130G>T | |
| ENST00000690617.1:n.3507G>T | ||
| ENST00000690657.1:c.1710G>T | ENSP00000510699.1:p.Leu570= | |
| ENST00000690663.1:c.3183G>T | ENSP00000509297.1:p.Leu1061= | |
| ENST00000690677.1:c.*2852G>T | ENSP00000510036.1:n.*2852G>T | |
| ENST00000690723.1:c.*655G>T | ENSP00000508811.1:n.*655G>T | |
| ENST00000690800.1:n.493G>T | ||
| ENST00000690862.1:c.3339G>T | ENSP00000509210.1:p.Leu1113= | |
| ENST00000691148.1:n.4037G>T | ||
| ENST00000691360.1:c.*2996G>T | ENSP00000510040.1:n.*2996G>T | |
| ENST00000691583.1:c.3339G>T | ENSP00000510741.1:p.Leu1113= | |
| ENST00000691641.1:c.*3118G>T | ENSP00000509350.1:n.*3118G>T | |
| ENST00000691705.1:c.*130G>T | ENSP00000510077.1:n.*130G>T | |
| ENST00000691733.1:c.3393G>T | ENSP00000509735.1:p.Leu1131= | |
| ENST00000691770.1:c.*922G>T | ENSP00000510126.1:n.*922G>T | |
| ENST00000691964.1:c.3336G>T | ENSP00000509094.1:p.Leu1112= | |
| ENST00000692228.1:c.*2467G>T | ENSP00000508464.1:n.*2467G>T | |
| ENST00000692242.1:c.3573G>T | ENSP00000509878.1:p.Leu1191= | |
| ENST00000692321.1:c.2889G>T | ENSP00000508614.1:p.Leu963= | |
| ENST00000692391.1:c.*581G>T | ENSP00000509211.1:n.*581G>T | |
| ENST00000692508.1:n.4217G>T | ||
| ENST00000692728.1:c.2889G>T | ENSP00000510105.1:p.Leu963= | |
| ENST00000692901.1:c.3162G>T | ENSP00000510339.1:p.Leu1054= | |
| ENST00000692929.1:n.2424G>T | ||
| ENST00000692985.1:c.*3110G>T | ENSP00000510460.1:n.*3110G>T | |
| ENST00000693114.1:c.*2407G>T | ENSP00000508738.1:n.*2407G>T | |
| ENST00000693129.1:c.3516G>T | ENSP00000509806.1:p.Leu1172= | |
| ENST00000693162.1:c.*581G>T | ENSP00000509103.1:n.*581G>T | |
| ENST00000693233.1:c.2943G>T | ENSP00000509186.1:p.Leu981= | |
| ENST00000693489.1:c.3507G>T | ENSP00000509656.1:p.Leu1169= | |
| ENST00000693588.1:c.3237G>T | ENSP00000509216.1:p.Leu1079= | |
| ENST00000693654.1:n.3807G>T | ||
| ENST00000348417.7:c.3570G>T MANE Select | ENSP00000324005.4:p.Leu1190= | |
| ENST00000296266.7:c.3723G>T | ENSP00000296266.3:p.Leu1241= | |
| ENST00000347300.6:c.3393G>T | ENSP00000323973.3:p.Leu1131= | |
| ENST00000348417.6:c.3570G>T | ENSP00000324005.3:p.Leu1190= | |
| ENST00000349441.6:c.3240G>T | ENSP00000324165.3:p.Leu1080= | |
| ENST00000431818.6:c.3120G>T | ENSP00000410946.2:p.Leu1040= | |
| ENST00000440957.6:c.2943G>T | ENSP00000401569.2:p.Leu981= | |
| ENST00000504021.5:c.3201G>T | ENSP00000422179.1:p.Leu1067= | |
| ENST00000506507.5:n.4286G>T | ||
| ENST00000507564.5:c.3549G>T | ENSP00000425536.1:p.Leu1183= | |
| ENST00000511425.5:n.1979G>T | ||
| ENST00000512220.5:c.*3478G>T | ENSP00000421953.1:n.*3478G>T | |
| ENST00000513190.1:n.2614G>T | ||
| NM_001280541.1:c.3549G>T | NP_001267470.1:p.Leu1183= | |
| NM_001280545.1:c.3120G>T | NP_001267474.1:p.Leu1040= | |
| NM_001280546.1:c.2943G>T | NP_001267475.1:p.Leu981= | |
| NM_018262.3:c.3393G>T | NP_060732.2:p.Leu1131= | |
| NM_052985.3:c.3723G>T | NP_443711.2:p.Leu1241= | |
| NM_052989.2:c.3570G>T | NP_443715.1:p.Leu1190= | |
| NM_052990.2:c.3240G>T | NP_443716.1:p.Leu1080= | |
| XM_005247609.1:c.3396G>T | XP_005247666.1:p.Leu1132= | |
| XM_006713689.1:c.3573G>T | XP_006713752.1:p.Leu1191= | |
| XM_006713691.2:c.3519G>T | XP_006713754.1:p.Leu1173= | |
| XM_006713692.2:c.3342G>T | XP_006713755.1:p.Leu1114= | |
| XM_011512967.1:c.3417G>T | XP_011511269.1:p.Leu1139= | |
| XM_011512968.1:c.3123G>T | XP_011511270.1:p.Leu1041= | |
| XM_011512969.1:c.3123G>T | XP_011511271.1:p.Leu1041= | |
| XM_011512970.1:c.3123G>T | XP_011511272.1:p.Leu1041= | |
| XM_011512971.1:c.2946G>T | XP_011511273.1:p.Leu982= | |
| XM_011512973.1:c.2169G>T | XP_011511275.1:p.Leu723= | |
| XM_005247609.2:c.3396G>T | XP_005247666.1:p.Leu1132= | |
| XM_006713689.2:c.3573G>T | XP_006713752.1:p.Leu1191= | |
| XM_006713691.3:c.3519G>T | XP_006713754.1:p.Leu1173= | |
| XM_006713692.3:c.3342G>T | XP_006713755.1:p.Leu1114= | |
| XM_017006817.2:c.3573G>T | XP_016862306.1:p.Leu1191= | |
| XM_017006818.2:c.3570G>T | XP_016862307.1:p.Leu1190= | |
| XM_017006819.2:c.3519G>T | XP_016862308.1:p.Leu1173= | |
| XM_017006820.2:c.3516G>T | XP_016862309.1:p.Leu1172= | |
| XM_017006821.2:c.3516G>T | XP_016862310.1:p.Leu1172= | |
| XM_017006822.2:c.3417G>T | XP_016862311.1:p.Leu1139= | |
| XM_017006823.2:c.3396G>T | XP_016862312.1:p.Leu1132= | |
| XM_017006824.2:c.3393G>T | XP_016862313.1:p.Leu1131= | |
| XM_017006825.2:c.3342G>T | XP_016862314.1:p.Leu1114= | |
| XM_017006826.2:c.3339G>T | XP_016862315.1:p.Leu1113= | |
| XM_017006827.2:c.3339G>T | XP_016862316.1:p.Leu1113= | |
| XM_017006828.2:c.3240G>T | XP_016862317.1:p.Leu1080= | |
| XM_017006829.2:c.3237G>T | XP_016862318.1:p.Leu1079= | |
| XM_017006830.2:c.3123G>T | XP_016862319.1:p.Leu1041= | |
| XM_017006831.1:c.3123G>T | XP_016862320.1:p.Leu1041= | |
| XM_017006832.1:c.3123G>T | XP_016862321.1:p.Leu1041= | |
| XM_017006833.2:c.3186G>T | XP_016862322.1:p.Leu1062= | |
| XM_017006834.2:c.3183G>T | XP_016862323.1:p.Leu1061= | |
| XM_017006835.1:c.2946G>T | XP_016862324.1:p.Leu982= | |
| XM_017006836.2:c.2892G>T | XP_016862325.1:p.Leu964= | |
| XM_017006837.1:c.2169G>T | XP_016862326.1:p.Leu723= | |
| XM_017006838.2:c.2166G>T | XP_016862327.1:p.Leu722= | |
| XM_024453639.1:c.2616G>T | XP_024309407.1:p.Leu872= | |
| NM_001280541.2:c.3549G>T | NP_001267470.1:p.Leu1183= | |
| NM_018262.4:c.3393G>T | NP_060732.2:p.Leu1131= | |
| NM_052985.4:c.3723G>T | NP_443711.2:p.Leu1241= | |
| NM_052989.3:c.3570G>T MANE Select | NP_443715.1:p.Leu1190= | |
| NM_052990.3:c.3240G>T | NP_443716.1:p.Leu1080= | |
| NM_001280545.2:c.3120G>T | NP_001267474.1:p.Leu1040= | |
| NM_001280546.2:c.2943G>T | NP_001267475.1:p.Leu981= |