Linked Data
ClinVar Variation Id:
379213
dbSNP Id:
rs775889693
ExAC:
2:179498399 G / A
gnomAD v2:
2-179498399-G-A
gnomAD v3:
2-178633672-G-A
gnomAD v4:
2-178633672-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178633672G>A , CM000664.2:g.178633672G>A | GRCh38 |
| NC_000002.11:g.179498399G>A , CM000664.1:g.179498399G>A | GRCh37 |
| NC_000002.10:g.179206644G>A | NCBI36 |
| NG_011618.3:g.202131C>T , LRG_391:g.202131C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.34983C>T | ENSP00000343764.6:p.Ala11661= | |
| ENST00000342175.11:c.16068C>T | ENSP00000340554.6:p.Ala5356= | |
| ENST00000359218.10:c.15867C>T | ENSP00000352154.5:p.Ala5289= | |
| ENST00000342175.10:c.16068C>T | ENSP00000340554.6:p.Ala5356= | |
| ENST00000342992.10:c.34983C>T | ENSP00000343764.6:p.Ala11661= | |
| ENST00000359218.9:c.15867C>T | ENSP00000352154.5:p.Ala5289= | |
| ENST00000460472.6:c.15492C>T | ENSP00000434586.1:p.Ala5164= | |
| ENST00000589042.5:c.42687C>T MANE Select | ENSP00000467141.1:p.Ala14229= | |
| ENST00000591111.5:c.37764C>T | ENSP00000465570.1:p.Ala12588= | |
| ENST00000615779.4:c.37764C>T | ENSP00000483597.1:p.Ala12588= | |
| NM_001256850.1:c.37764C>T | NP_001243779.1:p.Ala12588= | |
| NM_001267550.2:c.42687C>T MANE Select | NP_001254479.2:p.Ala14229= | |
| NM_003319.4:c.15492C>T | NP_003310.4:p.Ala5164= | |
| NM_133378.4:c.34983C>T | NP_596869.4:p.Ala11661= | |
| NM_133432.3:c.15867C>T | NP_597676.3:p.Ala5289= | |
| NM_133437.4:c.16068C>T | NP_597681.4:p.Ala5356= | |
| XM_011511729.1:c.41784C>T | XP_011510031.1:p.Ala13928= | |
| XM_011511730.1:c.15678C>T | XP_011510032.1:p.Ala5226= | |
| XM_011511731.1:c.15537C>T | XP_011510033.1:p.Ala5179= | |
| XM_017004819.1:c.41580C>T | XP_016860308.1:p.Ala13860= | |
| XM_017004820.1:c.36978C>T | XP_016860309.1:p.Ala12326= | |
| XM_017004821.1:c.36975C>T | XP_016860310.1:p.Ala12325= | |
| XM_017004822.1:c.34017C>T | XP_016860311.1:p.Ala11339= | |
| XM_017004823.1:c.15633C>T | XP_016860312.1:p.Ala5211= | |
| XM_024453094.1:c.37128C>T | XP_024308862.1:p.Ala12376= | |
| XM_024453095.1:c.37125C>T | XP_024308863.1:p.Ala12375= | |
| XM_024453096.1:c.36558C>T | XP_024308864.1:p.Ala12186= | |
| XM_024453097.1:c.33900C>T | XP_024308865.1:p.Ala11300= | |
| XM_024453098.1:c.33819C>T | XP_024308866.1:p.Ala11273= | |
| XM_024453099.1:c.15582C>T | XP_024308867.1:p.Ala5194= | |
| XM_024453100.1:c.5436C>T | XP_024308868.1:p.Ala1812= |