Linked Data
ClinVar Variation Id:
404890
dbSNP Id:
rs115825044
ExAC:
2:179497119 G / C
gnomAD v2:
2-179497119-G-C
gnomAD v3:
2-178632392-G-C
gnomAD v4:
2-178632392-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178632392G>C , CM000664.2:g.178632392G>C | GRCh38 |
| NC_000002.11:g.179497119G>C , CM000664.1:g.179497119G>C | GRCh37 |
| NC_000002.10:g.179205364G>C | NCBI36 |
| NG_011618.3:g.203411C>G , LRG_391:g.203411C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.35798C>G | ENSP00000343764.6:p.Thr11933Ser | |
| ENST00000342175.11:c.16883C>G | ENSP00000340554.6:p.Thr5628Ser | |
| ENST00000359218.10:c.16682C>G | ENSP00000352154.5:p.Thr5561Ser | |
| ENST00000342175.10:c.16883C>G | ENSP00000340554.6:p.Thr5628Ser | |
| ENST00000342992.10:c.35798C>G | ENSP00000343764.6:p.Thr11933Ser | |
| ENST00000359218.9:c.16682C>G | ENSP00000352154.5:p.Thr5561Ser | |
| ENST00000460472.6:c.16307C>G | ENSP00000434586.1:p.Thr5436Ser | |
| ENST00000589042.5:c.43502C>G MANE Select | ENSP00000467141.1:p.Thr14501Ser | |
| ENST00000591111.5:c.38579C>G | ENSP00000465570.1:p.Thr12860Ser | |
| ENST00000615779.4:c.38579C>G | ENSP00000483597.1:p.Thr12860Ser | |
| NM_001256850.1:c.38579C>G | NP_001243779.1:p.Thr12860Ser | |
| NM_001267550.2:c.43502C>G MANE Select | NP_001254479.2:p.Thr14501Ser | |
| NM_003319.4:c.16307C>G | NP_003310.4:p.Thr5436Ser | |
| NM_133378.4:c.35798C>G | NP_596869.4:p.Thr11933Ser | |
| NM_133432.3:c.16682C>G | NP_597676.3:p.Thr5561Ser | |
| NM_133437.4:c.16883C>G | NP_597681.4:p.Thr5628Ser | |
| XM_011511729.1:c.42599C>G | XP_011510031.1:p.Thr14200Ser | |
| XM_011511730.1:c.16493C>G | XP_011510032.1:p.Thr5498Ser | |
| XM_011511731.1:c.16352C>G | XP_011510033.1:p.Thr5451Ser | |
| XM_017004819.1:c.42395C>G | XP_016860308.1:p.Thr14132Ser | |
| XM_017004820.1:c.37793C>G | XP_016860309.1:p.Thr12598Ser | |
| XM_017004821.1:c.37790C>G | XP_016860310.1:p.Thr12597Ser | |
| XM_017004822.1:c.34832C>G | XP_016860311.1:p.Thr11611Ser | |
| XM_017004823.1:c.16448C>G | XP_016860312.1:p.Thr5483Ser | |
| XM_024453094.1:c.37943C>G | XP_024308862.1:p.Thr12648Ser | |
| XM_024453095.1:c.37940C>G | XP_024308863.1:p.Thr12647Ser | |
| XM_024453096.1:c.37373C>G | XP_024308864.1:p.Thr12458Ser | |
| XM_024453097.1:c.34715C>G | XP_024308865.1:p.Thr11572Ser | |
| XM_024453098.1:c.34634C>G | XP_024308866.1:p.Thr11545Ser | |
| XM_024453099.1:c.16397C>G | XP_024308867.1:p.Thr5466Ser | |
| XM_024453100.1:c.6251C>G | XP_024308868.1:p.Thr2084Ser |