Linked Data
ClinVar Variation Id:
2498919
ClinVar RCV Id:
RCV003223128
dbSNP Id:
rs750038933
ExAC:
3:9517423 A / G
gnomAD v2:
3-9517423-A-G
gnomAD v3:
3-9475739-A-G
gnomAD v4:
3-9475739-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9475739A>G , CM000665.2:g.9475739A>G | GRCh38 |
| NC_000003.11:g.9517423A>G , CM000665.1:g.9517423A>G | GRCh37 |
| NC_000003.10:g.9492423A>G | NCBI36 |
| NG_034132.1:g.83040A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682236.1:n.2932A>G | ||
| ENST00000682536.1:c.4073A>G | ENSP00000507956.1:p.His1358Arg | |
| ENST00000687014.1:n.4966A>G | ||
| ENST00000689167.1:n.2357A>G | ||
| ENST00000693430.1:n.6219A>G | ||
| ENST00000402198.7:c.3977A>G MANE Select | ENSP00000385852.2:p.His1326Arg | |
| ENST00000663774.1:c.*4123A>G | ENSP00000499452.1:n.*4123A>G | |
| ENST00000665872.1:c.*4046A>G | ENSP00000499600.1:n.*4046A>G | |
| ENST00000666307.1:c.*4351A>G | ENSP00000499402.1:n.*4351A>G | |
| ENST00000670063.1:c.*4082A>G | ENSP00000499725.1:n.*4082A>G | |
| ENST00000302463.10:c.3683A>G | ENSP00000302028.6:p.His1228Arg | |
| ENST00000399686.6:c.2722+583A>G | ||
| ENST00000402198.5:c.3977A>G | ENSP00000385852.1:p.His1326Arg | |
| ENST00000406341.5:c.3977A>G | ENSP00000383939.1:p.His1326Arg | |
| ENST00000407969.5:c.4034A>G | ENSP00000384114.1:p.His1345Arg | |
| ENST00000413704.5:c.3013A>G | ||
| ENST00000466242.5:n.3318A>G | ||
| ENST00000493918.5:n.4141A>G | ||
| NM_001080517.2:c.3977A>G | NP_001073986.1:p.His1326Arg | |
| NM_001292043.1:c.3683A>G | NP_001278972.1:p.His1228Arg | |
| XM_005265301.1:c.4034A>G | XP_005265358.1:p.His1345Arg | |
| XM_005265303.1:c.3977A>G | XP_005265360.1:p.His1326Arg | |
| XM_011533920.1:c.4151A>G | XP_011532222.1:p.His1384Arg | |
| XM_011533921.1:c.4151A>G | XP_011532223.1:p.His1384Arg | |
| XM_011533922.1:c.4130A>G | XP_011532224.1:p.His1377Arg | |
| XM_011533923.1:c.4130A>G | XP_011532225.1:p.His1377Arg | |
| XM_011533924.1:c.4130A>G | XP_011532226.1:p.His1377Arg | |
| XM_011533925.1:c.4112A>G | XP_011532227.1:p.His1371Arg | |
| XM_011533926.1:c.4094A>G | XP_011532228.1:p.His1365Arg | |
| XM_011533927.1:c.4094A>G | XP_011532229.1:p.His1365Arg | |
| XM_011533928.1:c.4073A>G | XP_011532230.1:p.His1358Arg | |
| XM_011533929.1:c.4055A>G | XP_011532231.1:p.His1352Arg | |
| XM_011533930.1:c.4016A>G | XP_011532232.1:p.His1339Arg | |
| XM_011533931.1:c.3740A>G | XP_011532233.1:p.His1247Arg | |
| XM_011533932.1:c.3701A>G | XP_011532234.1:p.His1234Arg | |
| XM_011533933.1:c.3701A>G | XP_011532235.1:p.His1234Arg | |
| NM_001349451.1:c.3683A>G | NP_001336380.1:p.His1228Arg | |
| XM_011533921.2:c.4151A>G | XP_011532223.1:p.His1384Arg | |
| XM_017006767.1:c.4151A>G | XP_016862256.1:p.His1384Arg | |
| XM_017006768.2:c.4130A>G | XP_016862257.1:p.His1377Arg | |
| XM_017006770.1:c.4094A>G | XP_016862259.1:p.His1365Arg | |
| XM_017006771.1:c.4091A>G | XP_016862260.1:p.His1364Arg | |
| XM_017006772.1:c.4055A>G | XP_016862261.1:p.His1352Arg | |
| XM_017006773.1:c.4055A>G | XP_016862262.1:p.His1352Arg | |
| XM_017006774.1:c.4034A>G | XP_016862263.1:p.His1345Arg | |
| XM_017006775.1:c.3998A>G | XP_016862264.1:p.His1333Arg | |
| XM_017006776.1:c.3740A>G | XP_016862265.1:p.His1247Arg | |
| XM_017006777.1:c.3740A>G | XP_016862266.1:p.His1247Arg | |
| XM_017006778.1:c.3740A>G | XP_016862267.1:p.His1247Arg | |
| XM_017006779.1:c.3701A>G | XP_016862268.1:p.His1234Arg | |
| XM_017006780.1:c.3701A>G | XP_016862269.1:p.His1234Arg | |
| XM_017006783.1:c.3473A>G | XP_016862272.1:p.His1158Arg | |
| XM_024453620.1:c.4112A>G | XP_024309388.1:p.His1371Arg | |
| XM_024453621.1:c.3788A>G | XP_024309389.1:p.His1263Arg | |
| XR_001740195.2:n.8360A>G | ||
| NM_001080517.3:c.3977A>G MANE Select | NP_001073986.1:p.His1326Arg | |
| NM_001292043.2:c.3683A>G | NP_001278972.1:p.His1228Arg | |
| NM_001349451.2:c.3683A>G | NP_001336380.1:p.His1228Arg |