Linked Data
ClinVar Variation Id:
283739
dbSNP Id:
rs200606803
ExAC:
3:129238426 T / A
gnomAD v2:
3-129238426-T-A
gnomAD v3:
3-129519583-T-A
gnomAD v4:
3-129519583-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129519583T>A , CM000665.2:g.129519583T>A | GRCh38 |
| NC_000003.11:g.129238426T>A , CM000665.1:g.129238426T>A | GRCh37 |
| NC_000003.10:g.130721116T>A | NCBI36 |
| NG_023392.1:g.84459T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431818.8:c.*2749T>A | ENSP00000410946.3:n.*2749T>A | |
| ENST00000440957.7:c.*2808T>A | ENSP00000401569.3:n.*2808T>A | |
| ENST00000504021.6:c.3103T>A | ENSP00000422179.2:p.Phe1035Ile | |
| ENST00000504444.2:n.2430T>A | ||
| ENST00000507221.2:c.1573T>A | ENSP00000427515.2:p.Phe525Ile | |
| ENST00000513932.2:n.1780T>A | ||
| ENST00000515783.6:c.2992T>A | ENSP00000423288.2:p.Phe998Ile | |
| ENST00000685087.1:c.*47T>A | ENSP00000509245.1:n.*47T>A | |
| ENST00000685122.1:c.1576T>A | ENSP00000510278.1:p.Phe526Ile | |
| ENST00000685189.1:c.*3218T>A | ENSP00000510418.1:n.*3218T>A | |
| ENST00000685282.1:c.*705T>A | ENSP00000508642.1:n.*705T>A | |
| ENST00000685447.1:c.*607T>A | ENSP00000509155.1:n.*607T>A | |
| ENST00000685512.1:n.4290T>A | ||
| ENST00000685621.1:n.2668T>A | ||
| ENST00000685811.1:n.4228T>A | ||
| ENST00000685921.1:c.3199T>A | ENSP00000509914.1:p.Phe1067Ile | |
| ENST00000685939.1:c.*1907T>A | ENSP00000509414.1:n.*1907T>A | |
| ENST00000686375.1:c.*1928T>A | ENSP00000510777.1:n.*1928T>A | |
| ENST00000686473.1:c.3145T>A | ENSP00000508526.1:p.Phe1049Ile | |
| ENST00000686531.1:c.3091T>A | ENSP00000510570.1:p.Phe1031Ile | |
| ENST00000686614.1:n.2203T>A | ||
| ENST00000686830.1:c.3148T>A | ENSP00000510002.1:p.Phe1050Ile | |
| ENST00000687377.1:c.3436T>A | ENSP00000509225.1:p.Phe1146Ile | |
| ENST00000687398.1:c.*2945T>A | ENSP00000510191.1:n.*2945T>A | |
| ENST00000687461.1:n.3849T>A | ||
| ENST00000687645.1:c.*428T>A | ENSP00000510672.1:n.*428T>A | |
| ENST00000687766.1:c.*1079T>A | ENSP00000509886.1:n.*1079T>A | |
| ENST00000687791.1:c.*572T>A | ENSP00000509224.1:n.*572T>A | |
| ENST00000687845.1:c.2997T>A | ENSP00000508687.1:n.2997T>A | |
| ENST00000687864.1:n.4440T>A | ||
| ENST00000688020.1:c.3331T>A | ENSP00000508904.1:p.Phe1111Ile | |
| ENST00000688129.1:c.*3089T>A | ENSP00000509382.1:n.*3089T>A | |
| ENST00000688266.1:n.3000T>A | ||
| ENST00000688392.1:n.3901T>A | ||
| ENST00000688504.1:n.4386T>A | ||
| ENST00000688527.1:c.1630T>A | ENSP00000508740.1:p.Phe544Ile | |
| ENST00000688657.1:c.1465T>A | ENSP00000508933.1:p.Phe489Ile | |
| ENST00000688664.1:c.*2735T>A | ENSP00000510359.1:n.*2735T>A | |
| ENST00000688765.1:n.1196T>A | ||
| ENST00000689005.1:c.3010T>A | ENSP00000510168.1:p.Phe1004Ile | |
| ENST00000689313.1:c.3463T>A | ENSP00000509012.1:p.Phe1155Ile | |
| ENST00000689332.1:c.3313T>A | ENSP00000510425.1:p.Phe1105Ile | |
| ENST00000689384.1:n.4054T>A | ||
| ENST00000689492.1:c.3163T>A | ENSP00000510239.1:p.Phe1055Ile | |
| ENST00000689643.1:c.3487T>A | ENSP00000509801.1:p.Phe1163Ile | |
| ENST00000689796.1:c.3151T>A | ENSP00000509716.1:p.Phe1051Ile | |
| ENST00000689801.1:c.3259T>A | ENSP00000509982.1:p.Phe1087Ile | |
| ENST00000689871.1:c.*403T>A | ENSP00000510412.1:n.*403T>A | |
| ENST00000689884.1:n.2474T>A | ||
| ENST00000690209.1:c.*47T>A | ENSP00000509005.1:n.*47T>A | |
| ENST00000690617.1:n.3424T>A | ||
| ENST00000690657.1:c.1627T>A | ENSP00000510699.1:p.Phe543Ile | |
| ENST00000690663.1:c.3100T>A | ENSP00000509297.1:p.Phe1034Ile | |
| ENST00000690677.1:c.*2769T>A | ENSP00000510036.1:n.*2769T>A | |
| ENST00000690723.1:c.*572T>A | ENSP00000508811.1:n.*572T>A | |
| ENST00000690800.1:n.410T>A | ||
| ENST00000690862.1:c.3256T>A | ENSP00000509210.1:p.Phe1086Ile | |
| ENST00000691148.1:n.3954T>A | ||
| ENST00000691360.1:c.*2913T>A | ENSP00000510040.1:n.*2913T>A | |
| ENST00000691583.1:c.3256T>A | ENSP00000510741.1:p.Phe1086Ile | |
| ENST00000691641.1:c.*3035T>A | ENSP00000509350.1:n.*3035T>A | |
| ENST00000691705.1:c.*47T>A | ENSP00000510077.1:n.*47T>A | |
| ENST00000691733.1:c.3310T>A | ENSP00000509735.1:p.Phe1104Ile | |
| ENST00000691770.1:c.*839T>A | ENSP00000510126.1:n.*839T>A | |
| ENST00000691964.1:c.3253T>A | ENSP00000509094.1:p.Phe1085Ile | |
| ENST00000692228.1:c.*2384T>A | ENSP00000508464.1:n.*2384T>A | |
| ENST00000692242.1:c.3490T>A | ENSP00000509878.1:p.Phe1164Ile | |
| ENST00000692321.1:c.2806T>A | ENSP00000508614.1:p.Phe936Ile | |
| ENST00000692391.1:c.*498T>A | ENSP00000509211.1:n.*498T>A | |
| ENST00000692508.1:n.4134T>A | ||
| ENST00000692728.1:c.2806T>A | ENSP00000510105.1:p.Phe936Ile | |
| ENST00000692901.1:c.3079T>A | ENSP00000510339.1:p.Phe1027Ile | |
| ENST00000692929.1:n.2341T>A | ||
| ENST00000692985.1:c.*3027T>A | ENSP00000510460.1:n.*3027T>A | |
| ENST00000693114.1:c.*2324T>A | ENSP00000508738.1:n.*2324T>A | |
| ENST00000693129.1:c.3433T>A | ENSP00000509806.1:p.Phe1145Ile | |
| ENST00000693162.1:c.*498T>A | ENSP00000509103.1:n.*498T>A | |
| ENST00000693233.1:c.2860T>A | ENSP00000509186.1:p.Phe954Ile | |
| ENST00000693489.1:c.3424T>A | ENSP00000509656.1:p.Phe1142Ile | |
| ENST00000693588.1:c.3154T>A | ENSP00000509216.1:p.Phe1052Ile | |
| ENST00000693654.1:n.3724T>A | ||
| ENST00000348417.7:c.3487T>A MANE Select | ENSP00000324005.4:p.Phe1163Ile | |
| ENST00000296266.7:c.3640T>A | ENSP00000296266.3:p.Phe1214Ile | |
| ENST00000347300.6:c.3310T>A | ENSP00000323973.3:p.Phe1104Ile | |
| ENST00000348417.6:c.3487T>A | ENSP00000324005.3:p.Phe1163Ile | |
| ENST00000349441.6:c.3157T>A | ENSP00000324165.3:p.Phe1053Ile | |
| ENST00000431818.6:c.3037T>A | ENSP00000410946.2:p.Phe1013Ile | |
| ENST00000440957.6:c.2860T>A | ENSP00000401569.2:p.Phe954Ile | |
| ENST00000504021.5:c.3118T>A | ENSP00000422179.1:p.Phe1040Ile | |
| ENST00000506507.5:n.4203T>A | ||
| ENST00000507564.5:c.3466T>A | ENSP00000425536.1:p.Phe1156Ile | |
| ENST00000511425.5:n.1896T>A | ||
| ENST00000512220.5:c.*3395T>A | ENSP00000421953.1:n.*3395T>A | |
| ENST00000513190.1:n.2531T>A | ||
| NM_001280541.1:c.3466T>A | NP_001267470.1:p.Phe1156Ile | |
| NM_001280545.1:c.3037T>A | NP_001267474.1:p.Phe1013Ile | |
| NM_001280546.1:c.2860T>A | NP_001267475.1:p.Phe954Ile | |
| NM_018262.3:c.3310T>A | NP_060732.2:p.Phe1104Ile | |
| NM_052985.3:c.3640T>A | NP_443711.2:p.Phe1214Ile | |
| NM_052989.2:c.3487T>A | NP_443715.1:p.Phe1163Ile | |
| NM_052990.2:c.3157T>A | NP_443716.1:p.Phe1053Ile | |
| XM_005247609.1:c.3313T>A | XP_005247666.1:p.Phe1105Ile | |
| XM_006713689.1:c.3490T>A | XP_006713752.1:p.Phe1164Ile | |
| XM_006713691.2:c.3436T>A | XP_006713754.1:p.Phe1146Ile | |
| XM_006713692.2:c.3259T>A | XP_006713755.1:p.Phe1087Ile | |
| XM_011512967.1:c.3334T>A | XP_011511269.1:p.Phe1112Ile | |
| XM_011512968.1:c.3040T>A | XP_011511270.1:p.Phe1014Ile | |
| XM_011512969.1:c.3040T>A | XP_011511271.1:p.Phe1014Ile | |
| XM_011512970.1:c.3040T>A | XP_011511272.1:p.Phe1014Ile | |
| XM_011512971.1:c.2863T>A | XP_011511273.1:p.Phe955Ile | |
| XM_011512973.1:c.2086T>A | XP_011511275.1:p.Phe696Ile | |
| XM_005247609.2:c.3313T>A | XP_005247666.1:p.Phe1105Ile | |
| XM_006713689.2:c.3490T>A | XP_006713752.1:p.Phe1164Ile | |
| XM_006713691.3:c.3436T>A | XP_006713754.1:p.Phe1146Ile | |
| XM_006713692.3:c.3259T>A | XP_006713755.1:p.Phe1087Ile | |
| XM_017006817.2:c.3490T>A | XP_016862306.1:p.Phe1164Ile | |
| XM_017006818.2:c.3487T>A | XP_016862307.1:p.Phe1163Ile | |
| XM_017006819.2:c.3436T>A | XP_016862308.1:p.Phe1146Ile | |
| XM_017006820.2:c.3433T>A | XP_016862309.1:p.Phe1145Ile | |
| XM_017006821.2:c.3433T>A | XP_016862310.1:p.Phe1145Ile | |
| XM_017006822.2:c.3334T>A | XP_016862311.1:p.Phe1112Ile | |
| XM_017006823.2:c.3313T>A | XP_016862312.1:p.Phe1105Ile | |
| XM_017006824.2:c.3310T>A | XP_016862313.1:p.Phe1104Ile | |
| XM_017006825.2:c.3259T>A | XP_016862314.1:p.Phe1087Ile | |
| XM_017006826.2:c.3256T>A | XP_016862315.1:p.Phe1086Ile | |
| XM_017006827.2:c.3256T>A | XP_016862316.1:p.Phe1086Ile | |
| XM_017006828.2:c.3157T>A | XP_016862317.1:p.Phe1053Ile | |
| XM_017006829.2:c.3154T>A | XP_016862318.1:p.Phe1052Ile | |
| XM_017006830.2:c.3040T>A | XP_016862319.1:p.Phe1014Ile | |
| XM_017006831.1:c.3040T>A | XP_016862320.1:p.Phe1014Ile | |
| XM_017006832.1:c.3040T>A | XP_016862321.1:p.Phe1014Ile | |
| XM_017006833.2:c.3103T>A | XP_016862322.1:p.Phe1035Ile | |
| XM_017006834.2:c.3100T>A | XP_016862323.1:p.Phe1034Ile | |
| XM_017006835.1:c.2863T>A | XP_016862324.1:p.Phe955Ile | |
| XM_017006836.2:c.2809T>A | XP_016862325.1:p.Phe937Ile | |
| XM_017006837.1:c.2086T>A | XP_016862326.1:p.Phe696Ile | |
| XM_017006838.2:c.2083T>A | XP_016862327.1:p.Phe695Ile | |
| XM_024453639.1:c.2533T>A | XP_024309407.1:p.Phe845Ile | |
| NM_001280541.2:c.3466T>A | NP_001267470.1:p.Phe1156Ile | |
| NM_018262.4:c.3310T>A | NP_060732.2:p.Phe1104Ile | |
| NM_052985.4:c.3640T>A | NP_443711.2:p.Phe1214Ile | |
| NM_052989.3:c.3487T>A MANE Select | NP_443715.1:p.Phe1163Ile | |
| NM_052990.3:c.3157T>A | NP_443716.1:p.Phe1053Ile | |
| NM_001280545.2:c.3037T>A | NP_001267474.1:p.Phe1013Ile | |
| NM_001280546.2:c.2860T>A | NP_001267475.1:p.Phe954Ile |