Linked Data
ClinVar Variation Id:
220885
dbSNP Id:
rs183950862
ExAC:
2:179511286 T / C
gnomAD v2:
2-179511286-T-C
gnomAD v3:
2-178646559-T-C
gnomAD v4:
2-178646559-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178646559T>C , CM000664.2:g.178646559T>C | GRCh38 |
| NC_000002.11:g.179511286T>C , CM000664.1:g.179511286T>C | GRCh37 |
| NC_000002.10:g.179219531T>C | NCBI36 |
| NG_011618.3:g.189244A>G , LRG_391:g.189244A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.32594-529A>G | ENSP00000343764.6:n.32594-529A>G | |
| ENST00000342175.11:c.13859-4242A>G | ENSP00000340554.6:n.13859-4242A>G | |
| ENST00000359218.10:c.13658-4242A>G | ENSP00000352154.5:n.13658-4242A>G | |
| ENST00000342175.10:c.13859-4242A>G | ENSP00000340554.6:n.13859-4242A>G | |
| ENST00000342992.10:c.32594-529A>G | ENSP00000343764.6:n.32594-529A>G | |
| ENST00000359218.9:c.13658-4242A>G | ENSP00000352154.5:n.13658-4242A>G | |
| ENST00000414766.5:c.2441-4242A>G | ENSP00000401501.1:n.2441-4242A>G | |
| ENST00000426232.5:c.417-529A>G | ||
| ENST00000446966.1:c.740A>G | ENSP00000408004.1:p.Glu247Gly | |
| ENST00000460472.6:c.13283-4242A>G | ENSP00000434586.1:n.13283-4242A>G | |
| ENST00000589042.5:c.40223A>G MANE Select | ENSP00000467141.1:p.Glu13408Gly | |
| ENST00000591111.5:c.35375-529A>G | ENSP00000465570.1:n.35375-529A>G | |
| ENST00000615779.4:c.35375-529A>G | ENSP00000483597.1:n.35375-529A>G | |
| NM_001256850.1:c.35375-529A>G | NP_001243779.1:n.35375-529A>G | |
| NM_001267550.2:c.40223A>G MANE Select | NP_001254479.2:p.Glu13408Gly | |
| NM_003319.4:c.13283-4242A>G | NP_003310.4:n.13283-4242A>G | |
| NM_133378.4:c.32594-529A>G | NP_596869.4:n.32594-529A>G | |
| NM_133432.3:c.13658-4242A>G | NP_597676.3:n.13658-4242A>G | |
| NM_133437.4:c.13859-4242A>G | NP_597681.4:n.13859-4242A>G | |
| XM_011511729.1:c.39320A>G | XP_011510031.1:p.Glu13107Gly | |
| XM_011511730.1:c.13469-4242A>G | XP_011510032.1:n.13469-4242A>G | |
| XM_011511731.1:c.13328-4242A>G | XP_011510033.1:n.13328-4242A>G | |
| XM_017004819.1:c.39116A>G | XP_016860308.1:p.Glu13039Gly | |
| XM_017004820.1:c.34514A>G | XP_016860309.1:p.Glu11505Gly | |
| XM_017004821.1:c.34511A>G | XP_016860310.1:p.Glu11504Gly | |
| XM_017004822.1:c.31859-4242A>G | XP_016860311.1:n.31859-4242A>G | |
| XM_017004823.1:c.13424-4242A>G | XP_016860312.1:n.13424-4242A>G | |
| XM_024453094.1:c.34664A>G | XP_024308862.1:p.Glu11555Gly | |
| XM_024453095.1:c.34661A>G | XP_024308863.1:p.Glu11554Gly | |
| XM_024453096.1:c.34094A>G | XP_024308864.1:p.Glu11365Gly | |
| XM_024453097.1:c.31691-4242A>G | XP_024308865.1:n.31691-4242A>G | |
| XM_024453098.1:c.31610-4242A>G | XP_024308866.1:n.31610-4242A>G | |
| XM_024453099.1:c.13424-4242A>G | XP_024308867.1:n.13424-4242A>G | |
| XM_024453100.1:c.2972A>G | XP_024308868.1:p.Glu991Gly |