Linked Data
ClinVar Variation Id:
285627
dbSNP Id:
rs369709751
ExAC:
2:179495649 C / T
gnomAD v2:
2-179495649-C-T
gnomAD v3:
2-178630922-C-T
gnomAD v4:
2-178630922-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178630922C>T , CM000664.2:g.178630922C>T | GRCh38 |
| NC_000002.11:g.179495649C>T , CM000664.1:g.179495649C>T | GRCh37 |
| NC_000002.10:g.179203894C>T | NCBI36 |
| NG_011618.3:g.204881G>A , LRG_391:g.204881G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.36332G>A | ENSP00000343764.6:p.Arg12111Gln | |
| ENST00000342175.11:c.17417G>A | ENSP00000340554.6:p.Arg5806Gln | |
| ENST00000359218.10:c.17216G>A | ENSP00000352154.5:p.Arg5739Gln | |
| ENST00000342175.10:c.17417G>A | ENSP00000340554.6:p.Arg5806Gln | |
| ENST00000342992.10:c.36332G>A | ENSP00000343764.6:p.Arg12111Gln | |
| ENST00000359218.9:c.17216G>A | ENSP00000352154.5:p.Arg5739Gln | |
| ENST00000460472.6:c.16841G>A | ENSP00000434586.1:p.Arg5614Gln | |
| ENST00000589042.5:c.44036G>A MANE Select | ENSP00000467141.1:p.Arg14679Gln | |
| ENST00000591111.5:c.39113G>A | ENSP00000465570.1:p.Arg13038Gln | |
| ENST00000615779.4:c.39113G>A | ENSP00000483597.1:p.Arg13038Gln | |
| NM_001256850.1:c.39113G>A | NP_001243779.1:p.Arg13038Gln | |
| NM_001267550.2:c.44036G>A MANE Select | NP_001254479.2:p.Arg14679Gln | |
| NM_003319.4:c.16841G>A | NP_003310.4:p.Arg5614Gln | |
| NM_133378.4:c.36332G>A | NP_596869.4:p.Arg12111Gln | |
| NM_133432.3:c.17216G>A | NP_597676.3:p.Arg5739Gln | |
| NM_133437.4:c.17417G>A | NP_597681.4:p.Arg5806Gln | |
| XM_011511729.1:c.43133G>A | XP_011510031.1:p.Arg14378Gln | |
| XM_011511730.1:c.17027G>A | XP_011510032.1:p.Arg5676Gln | |
| XM_011511731.1:c.16886G>A | XP_011510033.1:p.Arg5629Gln | |
| XM_017004819.1:c.42929G>A | XP_016860308.1:p.Arg14310Gln | |
| XM_017004820.1:c.38327G>A | XP_016860309.1:p.Arg12776Gln | |
| XM_017004821.1:c.38324G>A | XP_016860310.1:p.Arg12775Gln | |
| XM_017004822.1:c.35366G>A | XP_016860311.1:p.Arg11789Gln | |
| XM_017004823.1:c.16982G>A | XP_016860312.1:p.Arg5661Gln | |
| XM_024453094.1:c.38477G>A | XP_024308862.1:p.Arg12826Gln | |
| XM_024453095.1:c.38474G>A | XP_024308863.1:p.Arg12825Gln | |
| XM_024453096.1:c.37907G>A | XP_024308864.1:p.Arg12636Gln | |
| XM_024453097.1:c.35249G>A | XP_024308865.1:p.Arg11750Gln | |
| XM_024453098.1:c.35168G>A | XP_024308866.1:p.Arg11723Gln | |
| XM_024453099.1:c.16931G>A | XP_024308867.1:p.Arg5644Gln | |
| XM_024453100.1:c.6785G>A | XP_024308868.1:p.Arg2262Gln |