Linked Data
ClinVar Variation Id:
167786
dbSNP Id:
rs375474669
ExAC:
2:179500702 C / T
gnomAD v2:
2-179500702-C-T
gnomAD v3:
2-178635975-C-T
gnomAD v4:
2-178635975-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178635975C>T , CM000664.2:g.178635975C>T | GRCh38 |
| NC_000002.11:g.179500702C>T , CM000664.1:g.179500702C>T | GRCh37 |
| NC_000002.10:g.179208947C>T | NCBI36 |
| NG_011618.3:g.199828G>A , LRG_391:g.199828G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.33892G>A | ENSP00000343764.6:p.Val11298Ile | |
| ENST00000342175.11:c.14977G>A | ENSP00000340554.6:p.Val4993Ile | |
| ENST00000359218.10:c.14776G>A | ENSP00000352154.5:p.Val4926Ile | |
| ENST00000342175.10:c.14977G>A | ENSP00000340554.6:p.Val4993Ile | |
| ENST00000342992.10:c.33892G>A | ENSP00000343764.6:p.Val11298Ile | |
| ENST00000359218.9:c.14776G>A | ENSP00000352154.5:p.Val4926Ile | |
| ENST00000460472.6:c.14401G>A | ENSP00000434586.1:p.Val4801Ile | |
| ENST00000589042.5:c.41596G>A MANE Select | ENSP00000467141.1:p.Val13866Ile | |
| ENST00000591111.5:c.36673G>A | ENSP00000465570.1:p.Val12225Ile | |
| ENST00000615779.4:c.36673G>A | ENSP00000483597.1:p.Val12225Ile | |
| NM_001256850.1:c.36673G>A | NP_001243779.1:p.Val12225Ile | |
| NM_001267550.2:c.41596G>A MANE Select | NP_001254479.2:p.Val13866Ile | |
| NM_003319.4:c.14401G>A | NP_003310.4:p.Val4801Ile | |
| NM_133378.4:c.33892G>A | NP_596869.4:p.Val11298Ile | |
| NM_133432.3:c.14776G>A | NP_597676.3:p.Val4926Ile | |
| NM_133437.4:c.14977G>A | NP_597681.4:p.Val4993Ile | |
| XM_011511729.1:c.40693G>A | XP_011510031.1:p.Val13565Ile | |
| XM_011511730.1:c.14587G>A | XP_011510032.1:p.Val4863Ile | |
| XM_011511731.1:c.14446G>A | XP_011510033.1:p.Val4816Ile | |
| XM_017004819.1:c.40489G>A | XP_016860308.1:p.Val13497Ile | |
| XM_017004820.1:c.35887G>A | XP_016860309.1:p.Val11963Ile | |
| XM_017004821.1:c.35884G>A | XP_016860310.1:p.Val11962Ile | |
| XM_017004822.1:c.32926G>A | XP_016860311.1:p.Val10976Ile | |
| XM_017004823.1:c.14542G>A | XP_016860312.1:p.Val4848Ile | |
| XM_024453094.1:c.36037G>A | XP_024308862.1:p.Val12013Ile | |
| XM_024453095.1:c.36034G>A | XP_024308863.1:p.Val12012Ile | |
| XM_024453096.1:c.35467G>A | XP_024308864.1:p.Val11823Ile | |
| XM_024453097.1:c.32809G>A | XP_024308865.1:p.Val10937Ile | |
| XM_024453098.1:c.32728G>A | XP_024308866.1:p.Val10910Ile | |
| XM_024453099.1:c.14491G>A | XP_024308867.1:p.Val4831Ile | |
| XM_024453100.1:c.4345G>A | XP_024308868.1:p.Val1449Ile |