Linked Data
ClinVar Variation Id:
196138
dbSNP Id:
rs115488133
ExAC:
1:5924483 T / C
gnomAD v2:
1-5924483-T-C
gnomAD v3:
1-5864423-T-C
gnomAD v4:
1-5864423-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.5864423T>C , CM000663.2:g.5864423T>C | GRCh38 |
| NC_000001.10:g.5924483T>C , CM000663.1:g.5924483T>C | GRCh37 |
| NC_000001.9:g.5847070T>C | NCBI36 |
| NG_011724.2:g.133049A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378156.9:c.3911A>G MANE Select | ENSP00000367398.4:p.His1304Arg | |
| ENST00000378156.8:c.3911A>G | ENSP00000367398.4:p.His1304Arg | |
| ENST00000378161.5:n.2758A>G | ||
| ENST00000378169.7:c.*2812A>G | ENSP00000367411.3:n.*2812A>G | |
| ENST00000460696.1:n.2659A>G | ||
| ENST00000478423.6:n.3643A>G | ||
| ENST00000489180.6:c.*1722A>G | ENSP00000423747.1:n.*1722A>G | |
| NM_001291593.1:c.2372A>G | NP_001278522.1:p.His791Arg | |
| NM_001291594.1:c.2375A>G | NP_001278523.1:p.His792Arg | |
| NM_015102.4:c.3911A>G | NP_055917.1:p.His1304Arg | |
| NR_111987.1:n.4726A>G | ||
| XM_006710563.2:c.3911A>G | XP_006710626.1:p.His1304Arg | |
| XM_006710565.2:c.3911A>G | XP_006710628.1:p.His1304Arg | |
| XM_011541213.1:c.3908A>G | XP_011539515.1:p.His1303Arg | |
| XM_011541214.1:c.3869A>G | XP_011539516.1:p.His1290Arg | |
| XM_011541215.1:c.3800A>G | XP_011539517.1:p.His1267Arg | |
| XM_011541216.1:c.3911A>G | XP_011539518.1:p.His1304Arg | |
| XM_011541217.1:c.3911A>G | XP_011539519.1:p.His1304Arg | |
| XM_011541218.1:c.3911A>G | XP_011539520.1:p.His1304Arg | |
| XM_011541219.1:c.3857A>G | XP_011539521.1:p.His1286Arg | |
| XM_011541220.1:c.*31A>G | XP_011539522.1:n.*31A>G | |
| XM_006710563.3:c.3911A>G | XP_006710626.1:p.His1304Arg | |
| XM_011541216.2:c.3911A>G | XP_011539518.1:p.His1304Arg | |
| XM_011541217.2:c.3911A>G | XP_011539519.1:p.His1304Arg | |
| XM_011541218.2:c.3911A>G | XP_011539520.1:p.His1304Arg | |
| XM_017000996.1:c.3866A>G | XP_016856485.1:p.His1289Arg | |
| XM_017000997.1:c.3911A>G | XP_016856486.1:p.His1304Arg | |
| XM_017000999.1:c.3383A>G | XP_016856488.1:p.His1128Arg | |
| XM_017001000.2:c.3383A>G | XP_016856489.1:p.His1128Arg | |
| XM_017001001.1:c.3113A>G | XP_016856490.1:p.His1038Arg | |
| XM_017001003.1:c.2372A>G | XP_016856492.1:p.His791Arg | |
| XR_001737114.1:n.3777A>G | ||
| XR_001737115.1:n.3762A>G | ||
| NM_015102.5:c.3911A>G MANE Select | NP_055917.1:p.His1304Arg | |
| NM_001291593.2:c.2372A>G | NP_001278522.1:p.His791Arg | |
| NM_001291594.2:c.2375A>G | NP_001278523.1:p.His792Arg | |
| NR_111987.2:n.4678A>G |