Linked Data
ClinVar Variation Id:
178214
dbSNP Id:
rs369800903
ExAC:
2:179489418 C / T
gnomAD v2:
2-179489418-C-T
gnomAD v3:
2-178624691-C-T
gnomAD v4:
2-178624691-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178624691C>T , CM000664.2:g.178624691C>T | GRCh38 |
| NC_000002.11:g.179489418C>T , CM000664.1:g.179489418C>T | GRCh37 |
| NC_000002.10:g.179197663C>T | NCBI36 |
| NG_011618.3:g.211112G>A , LRG_391:g.211112G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.36885G>A | ENSP00000343764.6:p.Thr12295= | |
| ENST00000342175.11:c.17970G>A | ENSP00000340554.6:p.Thr5990= | |
| ENST00000359218.10:c.17769G>A | ENSP00000352154.5:p.Thr5923= | |
| ENST00000342175.10:c.17970G>A | ENSP00000340554.6:p.Thr5990= | |
| ENST00000342992.10:c.36885G>A | ENSP00000343764.6:p.Thr12295= | |
| ENST00000359218.9:c.17769G>A | ENSP00000352154.5:p.Thr5923= | |
| ENST00000460472.6:c.17394G>A | ENSP00000434586.1:p.Thr5798= | |
| ENST00000589042.5:c.44589G>A MANE Select | ENSP00000467141.1:p.Thr14863= | |
| ENST00000591111.5:c.39666G>A | ENSP00000465570.1:p.Thr13222= | |
| ENST00000615779.4:c.39666G>A | ENSP00000483597.1:p.Thr13222= | |
| NM_001256850.1:c.39666G>A | NP_001243779.1:p.Thr13222= | |
| NM_001267550.2:c.44589G>A MANE Select | NP_001254479.2:p.Thr14863= | |
| NM_003319.4:c.17394G>A | NP_003310.4:p.Thr5798= | |
| NM_133378.4:c.36885G>A | NP_596869.4:p.Thr12295= | |
| NM_133432.3:c.17769G>A | NP_597676.3:p.Thr5923= | |
| NM_133437.4:c.17970G>A | NP_597681.4:p.Thr5990= | |
| XM_011511729.1:c.43686G>A | XP_011510031.1:p.Thr14562= | |
| XM_011511730.1:c.17580G>A | XP_011510032.1:p.Thr5860= | |
| XM_011511731.1:c.17439G>A | XP_011510033.1:p.Thr5813= | |
| XM_017004819.1:c.43482G>A | XP_016860308.1:p.Thr14494= | |
| XM_017004820.1:c.38880G>A | XP_016860309.1:p.Thr12960= | |
| XM_017004821.1:c.38877G>A | XP_016860310.1:p.Thr12959= | |
| XM_017004822.1:c.35919G>A | XP_016860311.1:p.Thr11973= | |
| XM_017004823.1:c.17535G>A | XP_016860312.1:p.Thr5845= | |
| XM_024453094.1:c.39030G>A | XP_024308862.1:p.Thr13010= | |
| XM_024453095.1:c.39027G>A | XP_024308863.1:p.Thr13009= | |
| XM_024453096.1:c.38460G>A | XP_024308864.1:p.Thr12820= | |
| XM_024453097.1:c.35802G>A | XP_024308865.1:p.Thr11934= | |
| XM_024453098.1:c.35721G>A | XP_024308866.1:p.Thr11907= | |
| XM_024453099.1:c.17484G>A | XP_024308867.1:p.Thr5828= | |
| XM_024453100.1:c.7338G>A | XP_024308868.1:p.Thr2446= |