Linked Data
ClinVar Variation Id:
413051
dbSNP Id:
rs373390402
ExAC:
2:179486733 A / T
gnomAD v2:
2-179486733-A-T
gnomAD v3:
2-178622006-A-T
gnomAD v4:
2-178622006-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178622006A>T , CM000664.2:g.178622006A>T | GRCh38 |
| NC_000002.11:g.179486733A>T , CM000664.1:g.179486733A>T | GRCh37 |
| NC_000002.10:g.179194978A>T | NCBI36 |
| NG_011618.3:g.213797T>A , LRG_391:g.213797T>A | |
| NG_051363.1:g.104180A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.37212T>A | ENSP00000343764.6:p.Val12404= | |
| ENST00000342175.11:c.18297T>A | ENSP00000340554.6:p.Val6099= | |
| ENST00000359218.10:c.18096T>A | ENSP00000352154.5:p.Val6032= | |
| ENST00000342175.10:c.18297T>A | ENSP00000340554.6:p.Val6099= | |
| ENST00000342992.10:c.37212T>A | ENSP00000343764.6:p.Val12404= | |
| ENST00000359218.9:c.18096T>A | ENSP00000352154.5:p.Val6032= | |
| ENST00000460472.6:c.17721T>A | ENSP00000434586.1:p.Val5907= | |
| ENST00000589042.5:c.44916T>A MANE Select | ENSP00000467141.1:p.Val14972= | |
| ENST00000591111.5:c.39993T>A | ENSP00000465570.1:p.Val13331= | |
| ENST00000615779.4:c.39993T>A | ENSP00000483597.1:p.Val13331= | |
| NM_001256850.1:c.39993T>A | NP_001243779.1:p.Val13331= | |
| NM_001267550.2:c.44916T>A MANE Select | NP_001254479.2:p.Val14972= | |
| NM_003319.4:c.17721T>A | NP_003310.4:p.Val5907= | |
| NM_133378.4:c.37212T>A | NP_596869.4:p.Val12404= | |
| NM_133432.3:c.18096T>A | NP_597676.3:p.Val6032= | |
| NM_133437.4:c.18297T>A | NP_597681.4:p.Val6099= | |
| XM_011511729.1:c.44013T>A | XP_011510031.1:p.Val14671= | |
| XM_011511730.1:c.17907T>A | XP_011510032.1:p.Val5969= | |
| XM_011511731.1:c.17766T>A | XP_011510033.1:p.Val5922= | |
| XM_017004819.1:c.43809T>A | XP_016860308.1:p.Val14603= | |
| XM_017004820.1:c.39207T>A | XP_016860309.1:p.Val13069= | |
| XM_017004821.1:c.39204T>A | XP_016860310.1:p.Val13068= | |
| XM_017004822.1:c.36246T>A | XP_016860311.1:p.Val12082= | |
| XM_017004823.1:c.17862T>A | XP_016860312.1:p.Val5954= | |
| XM_024453094.1:c.39357T>A | XP_024308862.1:p.Val13119= | |
| XM_024453095.1:c.39354T>A | XP_024308863.1:p.Val13118= | |
| XM_024453096.1:c.38787T>A | XP_024308864.1:p.Val12929= | |
| XM_024453097.1:c.36129T>A | XP_024308865.1:p.Val12043= | |
| XM_024453098.1:c.36048T>A | XP_024308866.1:p.Val12016= | |
| XM_024453099.1:c.17811T>A | XP_024308867.1:p.Val5937= | |
| XM_024453100.1:c.7665T>A | XP_024308868.1:p.Val2555= |