Linked Data
ClinVar Variation Id:
288762
dbSNP Id:
rs72677226
ExAC:
2:179485577 T / A
gnomAD v2:
2-179485577-T-A
gnomAD v3:
2-178620850-T-A
gnomAD v4:
2-178620850-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178620850T>A , CM000664.2:g.178620850T>A | GRCh38 |
| NC_000002.11:g.179485577T>A , CM000664.1:g.179485577T>A | GRCh37 |
| NC_000002.10:g.179193822T>A | NCBI36 |
| NG_011618.3:g.214953A>T , LRG_391:g.214953A>T | |
| NG_051363.1:g.103024T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.38056A>T | ENSP00000343764.6:p.Ile12686Phe | |
| ENST00000342175.11:c.19141A>T | ENSP00000340554.6:p.Ile6381Phe | |
| ENST00000359218.10:c.18940A>T | ENSP00000352154.5:p.Ile6314Phe | |
| ENST00000342175.10:c.19141A>T | ENSP00000340554.6:p.Ile6381Phe | |
| ENST00000342992.10:c.38056A>T | ENSP00000343764.6:p.Ile12686Phe | |
| ENST00000359218.9:c.18940A>T | ENSP00000352154.5:p.Ile6314Phe | |
| ENST00000460472.6:c.18565A>T | ENSP00000434586.1:p.Ile6189Phe | |
| ENST00000589042.5:c.45760A>T MANE Select | ENSP00000467141.1:p.Ile15254Phe | |
| ENST00000591111.5:c.40837A>T | ENSP00000465570.1:p.Ile13613Phe | |
| ENST00000615779.4:c.40837A>T | ENSP00000483597.1:p.Ile13613Phe | |
| NM_001256850.1:c.40837A>T | NP_001243779.1:p.Ile13613Phe | |
| NM_001267550.2:c.45760A>T MANE Select | NP_001254479.2:p.Ile15254Phe | |
| NM_003319.4:c.18565A>T | NP_003310.4:p.Ile6189Phe | |
| NM_133378.4:c.38056A>T | NP_596869.4:p.Ile12686Phe | |
| NM_133432.3:c.18940A>T | NP_597676.3:p.Ile6314Phe | |
| NM_133437.4:c.19141A>T | NP_597681.4:p.Ile6381Phe | |
| XM_011511729.1:c.44857A>T | XP_011510031.1:p.Ile14953Phe | |
| XM_011511730.1:c.18751A>T | XP_011510032.1:p.Ile6251Phe | |
| XM_011511731.1:c.18610A>T | XP_011510033.1:p.Ile6204Phe | |
| XM_017004819.1:c.44653A>T | XP_016860308.1:p.Ile14885Phe | |
| XM_017004820.1:c.40051A>T | XP_016860309.1:p.Ile13351Phe | |
| XM_017004821.1:c.40048A>T | XP_016860310.1:p.Ile13350Phe | |
| XM_017004822.1:c.37090A>T | XP_016860311.1:p.Ile12364Phe | |
| XM_017004823.1:c.18706A>T | XP_016860312.1:p.Ile6236Phe | |
| XM_024453094.1:c.40201A>T | XP_024308862.1:p.Ile13401Phe | |
| XM_024453095.1:c.40198A>T | XP_024308863.1:p.Ile13400Phe | |
| XM_024453096.1:c.39631A>T | XP_024308864.1:p.Ile13211Phe | |
| XM_024453097.1:c.36973A>T | XP_024308865.1:p.Ile12325Phe | |
| XM_024453098.1:c.36892A>T | XP_024308866.1:p.Ile12298Phe | |
| XM_024453099.1:c.18655A>T | XP_024308867.1:p.Ile6219Phe | |
| XM_024453100.1:c.8509A>T | XP_024308868.1:p.Ile2837Phe |