Linked Data
ClinVar Variation Id:
467153
ClinVar RCV Id:
RCV001131046
RCV002261109
RCV002404466
RCV000555469
RCV001131047
RCV001131048
RCV001131049
RCV001131050
RCV004527644
dbSNP Id:
rs754227553
ExAC:
2:179497738 T / C
gnomAD v2:
2-179497738-T-C
gnomAD v3:
2-178633011-T-C
gnomAD v4:
2-178633011-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178633011T>C , CM000664.2:g.178633011T>C | GRCh38 |
| NC_000002.11:g.179497738T>C , CM000664.1:g.179497738T>C | GRCh37 |
| NC_000002.10:g.179205983T>C | NCBI36 |
| NG_011618.3:g.202792A>G , LRG_391:g.202792A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.35416A>G | ENSP00000343764.6:p.Ile11806Val | |
| ENST00000342175.11:c.16501A>G | ENSP00000340554.6:p.Ile5501Val | |
| ENST00000359218.10:c.16300A>G | ENSP00000352154.5:p.Ile5434Val | |
| ENST00000342175.10:c.16501A>G | ENSP00000340554.6:p.Ile5501Val | |
| ENST00000342992.10:c.35416A>G | ENSP00000343764.6:p.Ile11806Val | |
| ENST00000359218.9:c.16300A>G | ENSP00000352154.5:p.Ile5434Val | |
| ENST00000460472.6:c.15925A>G | ENSP00000434586.1:p.Ile5309Val | |
| ENST00000589042.5:c.43120A>G MANE Select | ENSP00000467141.1:p.Ile14374Val | |
| ENST00000591111.5:c.38197A>G | ENSP00000465570.1:p.Ile12733Val | |
| ENST00000615779.4:c.38197A>G | ENSP00000483597.1:p.Ile12733Val | |
| NM_001256850.1:c.38197A>G | NP_001243779.1:p.Ile12733Val | |
| NM_001267550.2:c.43120A>G MANE Select | NP_001254479.2:p.Ile14374Val | |
| NM_003319.4:c.15925A>G | NP_003310.4:p.Ile5309Val | |
| NM_133378.4:c.35416A>G | NP_596869.4:p.Ile11806Val | |
| NM_133432.3:c.16300A>G | NP_597676.3:p.Ile5434Val | |
| NM_133437.4:c.16501A>G | NP_597681.4:p.Ile5501Val | |
| XM_011511729.1:c.42217A>G | XP_011510031.1:p.Ile14073Val | |
| XM_011511730.1:c.16111A>G | XP_011510032.1:p.Ile5371Val | |
| XM_011511731.1:c.15970A>G | XP_011510033.1:p.Ile5324Val | |
| XM_017004819.1:c.42013A>G | XP_016860308.1:p.Ile14005Val | |
| XM_017004820.1:c.37411A>G | XP_016860309.1:p.Ile12471Val | |
| XM_017004821.1:c.37408A>G | XP_016860310.1:p.Ile12470Val | |
| XM_017004822.1:c.34450A>G | XP_016860311.1:p.Ile11484Val | |
| XM_017004823.1:c.16066A>G | XP_016860312.1:p.Ile5356Val | |
| XM_024453094.1:c.37561A>G | XP_024308862.1:p.Ile12521Val | |
| XM_024453095.1:c.37558A>G | XP_024308863.1:p.Ile12520Val | |
| XM_024453096.1:c.36991A>G | XP_024308864.1:p.Ile12331Val | |
| XM_024453097.1:c.34333A>G | XP_024308865.1:p.Ile11445Val | |
| XM_024453098.1:c.34252A>G | XP_024308866.1:p.Ile11418Val | |
| XM_024453099.1:c.16015A>G | XP_024308867.1:p.Ile5339Val | |
| XM_024453100.1:c.5869A>G | XP_024308868.1:p.Ile1957Val |