Linked Data
ClinVar Variation Id:
96285
dbSNP Id:
rs398124450
ExAC:
2:179514922 T / C
gnomAD v2:
2-179514922-T-C
gnomAD v3:
2-178650195-T-C
gnomAD v4:
2-178650195-T-C
PubMed:
PMID:23757202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178650195T>C , CM000664.2:g.178650195T>C | GRCh38 |
| NC_000002.11:g.179514922T>C , CM000664.1:g.179514922T>C | GRCh37 |
| NC_000002.10:g.179223167T>C | NCBI36 |
| NG_011618.3:g.185608A>G , LRG_391:g.185608A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.32484A>G | ENSP00000343764.6:p.Glu10828= | |
| ENST00000342175.11:c.13859-7878A>G | ENSP00000340554.6:n.13859-7878A>G | |
| ENST00000359218.10:c.13658-7878A>G | ENSP00000352154.5:n.13658-7878A>G | |
| ENST00000342175.10:c.13859-7878A>G | ENSP00000340554.6:n.13859-7878A>G | |
| ENST00000342992.10:c.32484A>G | ENSP00000343764.6:p.Glu10828= | |
| ENST00000359218.9:c.13658-7878A>G | ENSP00000352154.5:n.13658-7878A>G | |
| ENST00000414766.5:c.2441-7878A>G | ENSP00000401501.1:n.2441-7878A>G | |
| ENST00000426232.5:c.307A>G | ||
| ENST00000446966.1:c.303A>G | ENSP00000408004.1:p.Glu101= | |
| ENST00000460472.6:c.13283-7878A>G | ENSP00000434586.1:n.13283-7878A>G | |
| ENST00000589042.5:c.39786A>G MANE Select | ENSP00000467141.1:p.Glu13262= | |
| ENST00000591111.5:c.35265A>G | ENSP00000465570.1:p.Glu11755= | |
| ENST00000615779.4:c.35265A>G | ENSP00000483597.1:p.Glu11755= | |
| NM_001256850.1:c.35265A>G | NP_001243779.1:p.Glu11755= | |
| NM_001267550.2:c.39786A>G MANE Select | NP_001254479.2:p.Glu13262= | |
| NM_003319.4:c.13283-7878A>G | NP_003310.4:n.13283-7878A>G | |
| NM_133378.4:c.32484A>G | NP_596869.4:p.Glu10828= | |
| NM_133432.3:c.13658-7878A>G | NP_597676.3:n.13658-7878A>G | |
| NM_133437.4:c.13859-7878A>G | NP_597681.4:n.13859-7878A>G | |
| XM_011511729.1:c.38883A>G | XP_011510031.1:p.Glu12961= | |
| XM_011511730.1:c.13469-7878A>G | XP_011510032.1:n.13469-7878A>G | |
| XM_011511731.1:c.13328-7878A>G | XP_011510033.1:n.13328-7878A>G | |
| XM_017004819.1:c.38679A>G | XP_016860308.1:p.Glu12893= | |
| XM_017004820.1:c.34077A>G | XP_016860309.1:p.Glu11359= | |
| XM_017004821.1:c.34074A>G | XP_016860310.1:p.Glu11358= | |
| XM_017004822.1:c.31859-7878A>G | XP_016860311.1:n.31859-7878A>G | |
| XM_017004823.1:c.13424-7878A>G | XP_016860312.1:n.13424-7878A>G | |
| XM_024453094.1:c.34227A>G | XP_024308862.1:p.Glu11409= | |
| XM_024453095.1:c.34224A>G | XP_024308863.1:p.Glu11408= | |
| XM_024453096.1:c.33657A>G | XP_024308864.1:p.Glu11219= | |
| XM_024453097.1:c.31691-7878A>G | XP_024308865.1:n.31691-7878A>G | |
| XM_024453098.1:c.31610-7878A>G | XP_024308866.1:n.31610-7878A>G | |
| XM_024453099.1:c.13424-7878A>G | XP_024308867.1:n.13424-7878A>G | |
| XM_024453100.1:c.2535A>G | XP_024308868.1:p.Glu845= |