Linked Data
ClinVar Variation Id:
238783
dbSNP Id:
rs762128685
ExAC:
2:179486662 C / T
gnomAD v2:
2-179486662-C-T
gnomAD v3:
2-178621935-C-T
gnomAD v4:
2-178621935-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178621935C>T , CM000664.2:g.178621935C>T | GRCh38 |
| NC_000002.11:g.179486662C>T , CM000664.1:g.179486662C>T | GRCh37 |
| NC_000002.10:g.179194907C>T | NCBI36 |
| NG_011618.3:g.213868G>A , LRG_391:g.213868G>A | |
| NG_051363.1:g.104109C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.37283G>A | ENSP00000343764.6:p.Arg12428His | |
| ENST00000342175.11:c.18368G>A | ENSP00000340554.6:p.Arg6123His | |
| ENST00000359218.10:c.18167G>A | ENSP00000352154.5:p.Arg6056His | |
| ENST00000342175.10:c.18368G>A | ENSP00000340554.6:p.Arg6123His | |
| ENST00000342992.10:c.37283G>A | ENSP00000343764.6:p.Arg12428His | |
| ENST00000359218.9:c.18167G>A | ENSP00000352154.5:p.Arg6056His | |
| ENST00000460472.6:c.17792G>A | ENSP00000434586.1:p.Arg5931His | |
| ENST00000589042.5:c.44987G>A MANE Select | ENSP00000467141.1:p.Arg14996His | |
| ENST00000591111.5:c.40064G>A | ENSP00000465570.1:p.Arg13355His | |
| ENST00000615779.4:c.40064G>A | ENSP00000483597.1:p.Arg13355His | |
| NM_001256850.1:c.40064G>A | NP_001243779.1:p.Arg13355His | |
| NM_001267550.2:c.44987G>A MANE Select | NP_001254479.2:p.Arg14996His | |
| NM_003319.4:c.17792G>A | NP_003310.4:p.Arg5931His | |
| NM_133378.4:c.37283G>A | NP_596869.4:p.Arg12428His | |
| NM_133432.3:c.18167G>A | NP_597676.3:p.Arg6056His | |
| NM_133437.4:c.18368G>A | NP_597681.4:p.Arg6123His | |
| XM_011511729.1:c.44084G>A | XP_011510031.1:p.Arg14695His | |
| XM_011511730.1:c.17978G>A | XP_011510032.1:p.Arg5993His | |
| XM_011511731.1:c.17837G>A | XP_011510033.1:p.Arg5946His | |
| XM_017004819.1:c.43880G>A | XP_016860308.1:p.Arg14627His | |
| XM_017004820.1:c.39278G>A | XP_016860309.1:p.Arg13093His | |
| XM_017004821.1:c.39275G>A | XP_016860310.1:p.Arg13092His | |
| XM_017004822.1:c.36317G>A | XP_016860311.1:p.Arg12106His | |
| XM_017004823.1:c.17933G>A | XP_016860312.1:p.Arg5978His | |
| XM_024453094.1:c.39428G>A | XP_024308862.1:p.Arg13143His | |
| XM_024453095.1:c.39425G>A | XP_024308863.1:p.Arg13142His | |
| XM_024453096.1:c.38858G>A | XP_024308864.1:p.Arg12953His | |
| XM_024453097.1:c.36200G>A | XP_024308865.1:p.Arg12067His | |
| XM_024453098.1:c.36119G>A | XP_024308866.1:p.Arg12040His | |
| XM_024453099.1:c.17882G>A | XP_024308867.1:p.Arg5961His | |
| XM_024453100.1:c.7736G>A | XP_024308868.1:p.Arg2579His |