Linked Data
dbSNP Id:
rs1218206980
gnomAD v2:
9-123201716-T-C
gnomAD v3:
9-120439438-T-C
gnomAD v4:
9-120439438-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120439438T>C , CM000671.2:g.120439438T>C | GRCh38 |
| NC_000009.11:g.123201716T>C , CM000671.1:g.123201716T>C | GRCh37 |
| NC_000009.10:g.122241537T>C | NCBI36 |
| NG_008999.1:g.145722A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360822.8:c.2993A>G | ENSP00000354065.4:p.His998Arg | |
| ENST00000416449.6:c.3587A>G | ENSP00000400395.2:p.His1196Arg | |
| ENST00000479584.2:n.1930A>G | ||
| ENST00000684780.1:n.3973A>G | ||
| ENST00000685866.1:c.*1510A>G | ENSP00000509484.1:n.*1510A>G | |
| ENST00000686376.1:c.3763A>G | ENSP00000510021.1:n.3763A>G | |
| ENST00000686842.1:n.7237A>G | ||
| ENST00000687279.1:c.3680A>G | ENSP00000508692.1:p.His1227Arg | |
| ENST00000687311.1:n.3646A>G | ||
| ENST00000687633.1:c.3584A>G | ENSP00000510289.1:p.His1195Arg | |
| ENST00000688923.1:n.3055A>G | ||
| ENST00000689688.1:c.3683A>G | ENSP00000510155.1:p.His1228Arg | |
| ENST00000690646.1:c.3587A>G | ENSP00000510383.1:p.His1196Arg | |
| ENST00000690814.1:c.*859A>G | ENSP00000508792.1:n.*859A>G | |
| ENST00000691504.1:n.3577A>G | ||
| ENST00000692155.1:c.3763A>G | ENSP00000510290.1:n.3763A>G | |
| ENST00000692746.1:n.3590A>G | ||
| ENST00000693386.1:c.3587A>G | ENSP00000510003.1:p.His1196Arg | |
| ENST00000693433.1:n.3577A>G | ||
| ENST00000693714.1:n.3630A>G | ||
| ENST00000693728.1:c.3587A>G | ENSP00000510580.1:p.His1196Arg | |
| ENST00000349780.9:c.3683A>G MANE Select | ENSP00000343818.4:p.His1228Arg | |
| ENST00000349780.8:c.3683A>G | ENSP00000343818.4:p.His1228Arg | |
| ENST00000360190.8:c.3683A>G | ENSP00000353317.4:p.His1228Arg | |
| ENST00000360822.7:c.2993A>G | ENSP00000354065.4:p.His998Arg | |
| ENST00000416449.5:c.1865A>G | ENSP00000400395.1:p.His622Arg | |
| ENST00000425647.1:c.713A>G | ENSP00000409941.1:p.His238Arg | |
| ENST00000473282.6:c.*2507A>G | ENSP00000419265.1:n.*2507A>G | |
| ENST00000480112.5:c.*1510A>G | ENSP00000418418.1:n.*1510A>G | |
| ENST00000483412.5:n.2991A>G | ||
| NM_001011649.2:c.3683A>G | NP_001011649.1:p.His1228Arg | |
| NM_001272039.1:c.2993A>G | NP_001258968.1:p.His998Arg | |
| NM_018249.5:c.3683A>G | NP_060719.4:p.His1228Arg | |
| NR_073554.1:n.3952A>G | ||
| NR_073555.1:n.3875A>G | ||
| NR_073556.1:n.4082A>G | ||
| NR_073557.1:n.3955A>G | ||
| NR_073558.1:n.3952A>G | ||
| XM_006717182.1:c.3587A>G | XP_006717245.1:p.His1196Arg | |
| XM_006717185.1:c.2996A>G | XP_006717248.1:p.His999Arg | |
| XM_011518860.1:c.3680A>G | XP_011517162.1:p.His1227Arg | |
| XM_011518861.1:c.3680A>G | XP_011517163.1:p.His1227Arg | |
| XM_017014921.1:c.3584A>G | XP_016870410.1:p.His1195Arg | |
| XM_017014922.1:c.2849A>G | XP_016870411.1:p.His950Arg | |
| XM_017014923.1:c.2996A>G | XP_016870412.1:p.His999Arg | |
| XM_017014924.1:c.1478A>G | XP_016870413.1:p.His493Arg | |
| NM_018249.6:c.3683A>G MANE Select | NP_060719.4:p.His1228Arg | |
| NM_001011649.3:c.3683A>G | NP_001011649.1:p.His1228Arg | |
| NR_073554.2:n.3949A>G | ||
| NR_073555.2:n.3872A>G | ||
| NR_073556.2:n.4079A>G | ||
| NR_073557.2:n.3952A>G | ||
| NR_073558.2:n.3949A>G | ||
| NM_001272039.2:c.2993A>G | NP_001258968.1:p.His998Arg |