Linked Data
ClinVar Variation Id:
223307
dbSNP Id:
rs771562210
ExAC:
2:179494967 C / T
gnomAD v2:
2-179494967-C-T
gnomAD v4:
2-178630240-C-T
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178630240C>T , CM000664.2:g.178630240C>T | GRCh38 |
| NC_000002.11:g.179494967C>T , CM000664.1:g.179494967C>T | GRCh37 |
| NC_000002.10:g.179203212C>T | NCBI36 |
| NG_011618.3:g.205563G>A , LRG_391:g.205563G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.36577+1G>A | ENSP00000343764.6:n.36577+1G>A | |
| ENST00000342175.11:c.17662+1G>A | ENSP00000340554.6:n.17662+1G>A | |
| ENST00000359218.10:c.17461+1G>A | ENSP00000352154.5:n.17461+1G>A | |
| ENST00000342175.10:c.17662+1G>A | ENSP00000340554.6:n.17662+1G>A | |
| ENST00000342992.10:c.36577+1G>A | ENSP00000343764.6:n.36577+1G>A | |
| ENST00000359218.9:c.17461+1G>A | ENSP00000352154.5:n.17461+1G>A | |
| ENST00000460472.6:c.17086+1G>A | ENSP00000434586.1:n.17086+1G>A | |
| ENST00000589042.5:c.44281+1G>A MANE Select | ENSP00000467141.1:n.44281+1G>A | |
| ENST00000591111.5:c.39358+1G>A | ENSP00000465570.1:n.39358+1G>A | |
| ENST00000615779.4:c.39358+1G>A | ENSP00000483597.1:n.39358+1G>A | |
| NM_001256850.1:c.39358+1G>A | NP_001243779.1:n.39358+1G>A | |
| NM_001267550.2:c.44281+1G>A MANE Select | NP_001254479.2:n.44281+1G>A | |
| NM_003319.4:c.17086+1G>A | NP_003310.4:n.17086+1G>A | |
| NM_133378.4:c.36577+1G>A | NP_596869.4:n.36577+1G>A | |
| NM_133432.3:c.17461+1G>A | NP_597676.3:n.17461+1G>A | |
| NM_133437.4:c.17662+1G>A | NP_597681.4:n.17662+1G>A | |
| XM_011511729.1:c.43378+1G>A | XP_011510031.1:n.43378+1G>A | |
| XM_011511730.1:c.17272+1G>A | XP_011510032.1:n.17272+1G>A | |
| XM_011511731.1:c.17131+1G>A | XP_011510033.1:n.17131+1G>A | |
| XM_017004819.1:c.43174+1G>A | XP_016860308.1:n.43174+1G>A | |
| XM_017004820.1:c.38572+1G>A | XP_016860309.1:n.38572+1G>A | |
| XM_017004821.1:c.38569+1G>A | XP_016860310.1:n.38569+1G>A | |
| XM_017004822.1:c.35611+1G>A | XP_016860311.1:n.35611+1G>A | |
| XM_017004823.1:c.17227+1G>A | XP_016860312.1:n.17227+1G>A | |
| XM_024453094.1:c.38722+1G>A | XP_024308862.1:n.38722+1G>A | |
| XM_024453095.1:c.38719+1G>A | XP_024308863.1:n.38719+1G>A | |
| XM_024453096.1:c.38152+1G>A | XP_024308864.1:n.38152+1G>A | |
| XM_024453097.1:c.35494+1G>A | XP_024308865.1:n.35494+1G>A | |
| XM_024453098.1:c.35413+1G>A | XP_024308866.1:n.35413+1G>A | |
| XM_024453099.1:c.17176+1G>A | XP_024308867.1:n.17176+1G>A | |
| XM_024453100.1:c.7030+1G>A | XP_024308868.1:n.7030+1G>A |