Linked Data
ClinVar Variation Id:
499001
dbSNP Id:
rs1359996660
gnomAD v2:
2-179498796-A-T
gnomAD v4:
2-178634069-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178634069A>T , CM000664.2:g.178634069A>T | GRCh38 |
| NC_000002.11:g.179498796A>T , CM000664.1:g.179498796A>T | GRCh37 |
| NC_000002.10:g.179207041A>T | NCBI36 |
| NG_011618.3:g.201734T>A , LRG_391:g.201734T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.34726T>A | ENSP00000343764.6:p.Phe11576Ile | |
| ENST00000342175.11:c.15811T>A | ENSP00000340554.6:p.Phe5271Ile | |
| ENST00000359218.10:c.15610T>A | ENSP00000352154.5:p.Phe5204Ile | |
| ENST00000342175.10:c.15811T>A | ENSP00000340554.6:p.Phe5271Ile | |
| ENST00000342992.10:c.34726T>A | ENSP00000343764.6:p.Phe11576Ile | |
| ENST00000359218.9:c.15610T>A | ENSP00000352154.5:p.Phe5204Ile | |
| ENST00000460472.6:c.15235T>A | ENSP00000434586.1:p.Phe5079Ile | |
| ENST00000589042.5:c.42430T>A MANE Select | ENSP00000467141.1:p.Phe14144Ile | |
| ENST00000591111.5:c.37507T>A | ENSP00000465570.1:p.Phe12503Ile | |
| ENST00000615779.4:c.37507T>A | ENSP00000483597.1:p.Phe12503Ile | |
| NM_001256850.1:c.37507T>A | NP_001243779.1:p.Phe12503Ile | |
| NM_001267550.2:c.42430T>A MANE Select | NP_001254479.2:p.Phe14144Ile | |
| NM_003319.4:c.15235T>A | NP_003310.4:p.Phe5079Ile | |
| NM_133378.4:c.34726T>A | NP_596869.4:p.Phe11576Ile | |
| NM_133432.3:c.15610T>A | NP_597676.3:p.Phe5204Ile | |
| NM_133437.4:c.15811T>A | NP_597681.4:p.Phe5271Ile | |
| XM_011511729.1:c.41527T>A | XP_011510031.1:p.Phe13843Ile | |
| XM_011511730.1:c.15421T>A | XP_011510032.1:p.Phe5141Ile | |
| XM_011511731.1:c.15280T>A | XP_011510033.1:p.Phe5094Ile | |
| XM_017004819.1:c.41323T>A | XP_016860308.1:p.Phe13775Ile | |
| XM_017004820.1:c.36721T>A | XP_016860309.1:p.Phe12241Ile | |
| XM_017004821.1:c.36718T>A | XP_016860310.1:p.Phe12240Ile | |
| XM_017004822.1:c.33760T>A | XP_016860311.1:p.Phe11254Ile | |
| XM_017004823.1:c.15376T>A | XP_016860312.1:p.Phe5126Ile | |
| XM_024453094.1:c.36871T>A | XP_024308862.1:p.Phe12291Ile | |
| XM_024453095.1:c.36868T>A | XP_024308863.1:p.Phe12290Ile | |
| XM_024453096.1:c.36301T>A | XP_024308864.1:p.Phe12101Ile | |
| XM_024453097.1:c.33643T>A | XP_024308865.1:p.Phe11215Ile | |
| XM_024453098.1:c.33562T>A | XP_024308866.1:p.Phe11188Ile | |
| XM_024453099.1:c.15325T>A | XP_024308867.1:p.Phe5109Ile | |
| XM_024453100.1:c.5179T>A | XP_024308868.1:p.Phe1727Ile |