Linked Data
ClinVar Variation Id:
498995
dbSNP Id:
rs879111430
gnomAD v2:
2-179504502-G-T
gnomAD v3:
2-178639775-G-T
gnomAD v4:
2-178639775-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178639775G>T , CM000664.2:g.178639775G>T | GRCh38 |
| NC_000002.11:g.179504502G>T , CM000664.1:g.179504502G>T | GRCh37 |
| NC_000002.10:g.179212747G>T | NCBI36 |
| NG_011618.3:g.196028C>A , LRG_391:g.196028C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.33096C>A | ENSP00000343764.6:p.Ile11032= | |
| ENST00000342175.11:c.14181C>A | ENSP00000340554.6:p.Ile4727= | |
| ENST00000359218.10:c.13980C>A | ENSP00000352154.5:p.Ile4660= | |
| ENST00000342175.10:c.14181C>A | ENSP00000340554.6:p.Ile4727= | |
| ENST00000342992.10:c.33096C>A | ENSP00000343764.6:p.Ile11032= | |
| ENST00000359218.9:c.13980C>A | ENSP00000352154.5:p.Ile4660= | |
| ENST00000414766.5:c.2763C>A | ENSP00000401501.1:p.Ile921= | |
| ENST00000426232.5:c.763C>A | ||
| ENST00000460472.6:c.13605C>A | ENSP00000434586.1:p.Ile4535= | |
| ENST00000589042.5:c.40800C>A MANE Select | ENSP00000467141.1:p.Ile13600= | |
| ENST00000591111.5:c.35877C>A | ENSP00000465570.1:p.Ile11959= | |
| ENST00000615779.4:c.35877C>A | ENSP00000483597.1:p.Ile11959= | |
| NM_001256850.1:c.35877C>A | NP_001243779.1:p.Ile11959= | |
| NM_001267550.2:c.40800C>A MANE Select | NP_001254479.2:p.Ile13600= | |
| NM_003319.4:c.13605C>A | NP_003310.4:p.Ile4535= | |
| NM_133378.4:c.33096C>A | NP_596869.4:p.Ile11032= | |
| NM_133432.3:c.13980C>A | NP_597676.3:p.Ile4660= | |
| NM_133437.4:c.14181C>A | NP_597681.4:p.Ile4727= | |
| XM_011511729.1:c.39897C>A | XP_011510031.1:p.Ile13299= | |
| XM_011511730.1:c.13791C>A | XP_011510032.1:p.Ile4597= | |
| XM_011511731.1:c.13650C>A | XP_011510033.1:p.Ile4550= | |
| XM_017004819.1:c.39693C>A | XP_016860308.1:p.Ile13231= | |
| XM_017004820.1:c.35091C>A | XP_016860309.1:p.Ile11697= | |
| XM_017004821.1:c.35088C>A | XP_016860310.1:p.Ile11696= | |
| XM_017004822.1:c.32181C>A | XP_016860311.1:p.Ile10727= | |
| XM_017004823.1:c.13746C>A | XP_016860312.1:p.Ile4582= | |
| XM_024453094.1:c.35241C>A | XP_024308862.1:p.Ile11747= | |
| XM_024453095.1:c.35238C>A | XP_024308863.1:p.Ile11746= | |
| XM_024453096.1:c.34671C>A | XP_024308864.1:p.Ile11557= | |
| XM_024453097.1:c.32013C>A | XP_024308865.1:p.Ile10671= | |
| XM_024453098.1:c.31932C>A | XP_024308866.1:p.Ile10644= | |
| XM_024453099.1:c.13746C>A | XP_024308867.1:p.Ile4582= | |
| XM_024453100.1:c.3549C>A | XP_024308868.1:p.Ile1183= |