Linked Data
ClinVar Variation Id:
467158
dbSNP Id:
rs373298007
ExAC:
2:179495039 C / T
gnomAD v2:
2-179495039-C-T
gnomAD v3:
2-178630312-C-T
gnomAD v4:
2-178630312-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178630312C>T , CM000664.2:g.178630312C>T | GRCh38 |
| NC_000002.11:g.179495039C>T , CM000664.1:g.179495039C>T | GRCh37 |
| NC_000002.10:g.179203284C>T | NCBI36 |
| NG_011618.3:g.205491G>A , LRG_391:g.205491G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.36506G>A | ENSP00000343764.6:p.Arg12169His | |
| ENST00000342175.11:c.17591G>A | ENSP00000340554.6:p.Arg5864His | |
| ENST00000359218.10:c.17390G>A | ENSP00000352154.5:p.Arg5797His | |
| ENST00000342175.10:c.17591G>A | ENSP00000340554.6:p.Arg5864His | |
| ENST00000342992.10:c.36506G>A | ENSP00000343764.6:p.Arg12169His | |
| ENST00000359218.9:c.17390G>A | ENSP00000352154.5:p.Arg5797His | |
| ENST00000460472.6:c.17015G>A | ENSP00000434586.1:p.Arg5672His | |
| ENST00000589042.5:c.44210G>A MANE Select | ENSP00000467141.1:p.Arg14737His | |
| ENST00000591111.5:c.39287G>A | ENSP00000465570.1:p.Arg13096His | |
| ENST00000615779.4:c.39287G>A | ENSP00000483597.1:p.Arg13096His | |
| NM_001256850.1:c.39287G>A | NP_001243779.1:p.Arg13096His | |
| NM_001267550.2:c.44210G>A MANE Select | NP_001254479.2:p.Arg14737His | |
| NM_003319.4:c.17015G>A | NP_003310.4:p.Arg5672His | |
| NM_133378.4:c.36506G>A | NP_596869.4:p.Arg12169His | |
| NM_133432.3:c.17390G>A | NP_597676.3:p.Arg5797His | |
| NM_133437.4:c.17591G>A | NP_597681.4:p.Arg5864His | |
| XM_011511729.1:c.43307G>A | XP_011510031.1:p.Arg14436His | |
| XM_011511730.1:c.17201G>A | XP_011510032.1:p.Arg5734His | |
| XM_011511731.1:c.17060G>A | XP_011510033.1:p.Arg5687His | |
| XM_017004819.1:c.43103G>A | XP_016860308.1:p.Arg14368His | |
| XM_017004820.1:c.38501G>A | XP_016860309.1:p.Arg12834His | |
| XM_017004821.1:c.38498G>A | XP_016860310.1:p.Arg12833His | |
| XM_017004822.1:c.35540G>A | XP_016860311.1:p.Arg11847His | |
| XM_017004823.1:c.17156G>A | XP_016860312.1:p.Arg5719His | |
| XM_024453094.1:c.38651G>A | XP_024308862.1:p.Arg12884His | |
| XM_024453095.1:c.38648G>A | XP_024308863.1:p.Arg12883His | |
| XM_024453096.1:c.38081G>A | XP_024308864.1:p.Arg12694His | |
| XM_024453097.1:c.35423G>A | XP_024308865.1:p.Arg11808His | |
| XM_024453098.1:c.35342G>A | XP_024308866.1:p.Arg11781His | |
| XM_024453099.1:c.17105G>A | XP_024308867.1:p.Arg5702His | |
| XM_024453100.1:c.6959G>A | XP_024308868.1:p.Arg2320His |