Linked Data
ClinVar Variation Id:
166074
dbSNP Id:
rs191699632
ExAC:
2:179502120 C / T
gnomAD v2:
2-179502120-C-T
gnomAD v3:
2-178637393-C-T
gnomAD v4:
2-178637393-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178637393C>T , CM000664.2:g.178637393C>T | GRCh38 |
| NC_000002.11:g.179502120C>T , CM000664.1:g.179502120C>T | GRCh37 |
| NC_000002.10:g.179210365C>T | NCBI36 |
| NG_011618.3:g.198410G>A , LRG_391:g.198410G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.33199G>A | ENSP00000343764.6:p.Ala11067Thr | |
| ENST00000342175.11:c.14284G>A | ENSP00000340554.6:p.Ala4762Thr | |
| ENST00000359218.10:c.14083G>A | ENSP00000352154.5:p.Ala4695Thr | |
| ENST00000342175.10:c.14284G>A | ENSP00000340554.6:p.Ala4762Thr | |
| ENST00000342992.10:c.33199G>A | ENSP00000343764.6:p.Ala11067Thr | |
| ENST00000359218.9:c.14083G>A | ENSP00000352154.5:p.Ala4695Thr | |
| ENST00000414766.5:c.2840-594G>A | ENSP00000401501.1:n.2840-594G>A | |
| ENST00000460472.6:c.13708G>A | ENSP00000434586.1:p.Ala4570Thr | |
| ENST00000589042.5:c.40903G>A MANE Select | ENSP00000467141.1:p.Ala13635Thr | |
| ENST00000591111.5:c.35980G>A | ENSP00000465570.1:p.Ala11994Thr | |
| ENST00000615779.4:c.35980G>A | ENSP00000483597.1:p.Ala11994Thr | |
| NM_001256850.1:c.35980G>A | NP_001243779.1:p.Ala11994Thr | |
| NM_001267550.2:c.40903G>A MANE Select | NP_001254479.2:p.Ala13635Thr | |
| NM_003319.4:c.13708G>A | NP_003310.4:p.Ala4570Thr | |
| NM_133378.4:c.33199G>A | NP_596869.4:p.Ala11067Thr | |
| NM_133432.3:c.14083G>A | NP_597676.3:p.Ala4695Thr | |
| NM_133437.4:c.14284G>A | NP_597681.4:p.Ala4762Thr | |
| XM_011511729.1:c.40000G>A | XP_011510031.1:p.Ala13334Thr | |
| XM_011511730.1:c.13894G>A | XP_011510032.1:p.Ala4632Thr | |
| XM_011511731.1:c.13753G>A | XP_011510033.1:p.Ala4585Thr | |
| XM_017004819.1:c.39796G>A | XP_016860308.1:p.Ala13266Thr | |
| XM_017004820.1:c.35194G>A | XP_016860309.1:p.Ala11732Thr | |
| XM_017004821.1:c.35191G>A | XP_016860310.1:p.Ala11731Thr | |
| XM_017004822.1:c.32258-594G>A | XP_016860311.1:n.32258-594G>A | |
| XM_017004823.1:c.13849G>A | XP_016860312.1:p.Ala4617Thr | |
| XM_024453094.1:c.35344G>A | XP_024308862.1:p.Ala11782Thr | |
| XM_024453095.1:c.35341G>A | XP_024308863.1:p.Ala11781Thr | |
| XM_024453096.1:c.34774G>A | XP_024308864.1:p.Ala11592Thr | |
| XM_024453097.1:c.32116G>A | XP_024308865.1:p.Ala10706Thr | |
| XM_024453098.1:c.32035G>A | XP_024308866.1:p.Ala10679Thr | |
| XM_024453099.1:c.13823-594G>A | XP_024308867.1:n.13823-594G>A | |
| XM_024453100.1:c.3652G>A | XP_024308868.1:p.Ala1218Thr |