Linked Data
ClinVar Variation Id:
179051
dbSNP Id:
rs374683153
ExAC:
2:179499545 C / T
gnomAD v2:
2-179499545-C-T
gnomAD v3:
2-178634818-C-T
gnomAD v4:
2-178634818-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178634818C>T , CM000664.2:g.178634818C>T | GRCh38 |
| NC_000002.11:g.179499545C>T , CM000664.1:g.179499545C>T | GRCh37 |
| NC_000002.10:g.179207790C>T | NCBI36 |
| NG_011618.3:g.200985G>A , LRG_391:g.200985G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.34352G>A | ENSP00000343764.6:p.Arg11451His | |
| ENST00000342175.11:c.15437G>A | ENSP00000340554.6:p.Arg5146His | |
| ENST00000359218.10:c.15236G>A | ENSP00000352154.5:p.Arg5079His | |
| ENST00000342175.10:c.15437G>A | ENSP00000340554.6:p.Arg5146His | |
| ENST00000342992.10:c.34352G>A | ENSP00000343764.6:p.Arg11451His | |
| ENST00000359218.9:c.15236G>A | ENSP00000352154.5:p.Arg5079His | |
| ENST00000460472.6:c.14861G>A | ENSP00000434586.1:p.Arg4954His | |
| ENST00000589042.5:c.42056G>A MANE Select | ENSP00000467141.1:p.Arg14019His | |
| ENST00000591111.5:c.37133G>A | ENSP00000465570.1:p.Arg12378His | |
| ENST00000615779.4:c.37133G>A | ENSP00000483597.1:p.Arg12378His | |
| NM_001256850.1:c.37133G>A | NP_001243779.1:p.Arg12378His | |
| NM_001267550.2:c.42056G>A MANE Select | NP_001254479.2:p.Arg14019His | |
| NM_003319.4:c.14861G>A | NP_003310.4:p.Arg4954His | |
| NM_133378.4:c.34352G>A | NP_596869.4:p.Arg11451His | |
| NM_133432.3:c.15236G>A | NP_597676.3:p.Arg5079His | |
| NM_133437.4:c.15437G>A | NP_597681.4:p.Arg5146His | |
| XM_011511729.1:c.41153G>A | XP_011510031.1:p.Arg13718His | |
| XM_011511730.1:c.15047G>A | XP_011510032.1:p.Arg5016His | |
| XM_011511731.1:c.14906G>A | XP_011510033.1:p.Arg4969His | |
| XM_017004819.1:c.40949G>A | XP_016860308.1:p.Arg13650His | |
| XM_017004820.1:c.36347G>A | XP_016860309.1:p.Arg12116His | |
| XM_017004821.1:c.36344G>A | XP_016860310.1:p.Arg12115His | |
| XM_017004822.1:c.33386G>A | XP_016860311.1:p.Arg11129His | |
| XM_017004823.1:c.15002G>A | XP_016860312.1:p.Arg5001His | |
| XM_024453094.1:c.36497G>A | XP_024308862.1:p.Arg12166His | |
| XM_024453095.1:c.36494G>A | XP_024308863.1:p.Arg12165His | |
| XM_024453096.1:c.35927G>A | XP_024308864.1:p.Arg11976His | |
| XM_024453097.1:c.33269G>A | XP_024308865.1:p.Arg11090His | |
| XM_024453098.1:c.33188G>A | XP_024308866.1:p.Arg11063His | |
| XM_024453099.1:c.14951G>A | XP_024308867.1:p.Arg4984His | |
| XM_024453100.1:c.4805G>A | XP_024308868.1:p.Arg1602His |