Linked Data
ClinVar Variation Id:
518970
dbSNP Id:
rs529018517
ExAC:
2:179497478 C / T
gnomAD v2:
2-179497478-C-T
gnomAD v3:
2-178632751-C-T
gnomAD v4:
2-178632751-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178632751C>T , CM000664.2:g.178632751C>T | GRCh38 |
| NC_000002.11:g.179497478C>T , CM000664.1:g.179497478C>T | GRCh37 |
| NC_000002.10:g.179205723C>T | NCBI36 |
| NG_011618.3:g.203052G>A , LRG_391:g.203052G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.35551G>A | ENSP00000343764.6:p.Val11851Ile | |
| ENST00000342175.11:c.16636G>A | ENSP00000340554.6:p.Val5546Ile | |
| ENST00000359218.10:c.16435G>A | ENSP00000352154.5:p.Val5479Ile | |
| ENST00000342175.10:c.16636G>A | ENSP00000340554.6:p.Val5546Ile | |
| ENST00000342992.10:c.35551G>A | ENSP00000343764.6:p.Val11851Ile | |
| ENST00000359218.9:c.16435G>A | ENSP00000352154.5:p.Val5479Ile | |
| ENST00000460472.6:c.16060G>A | ENSP00000434586.1:p.Val5354Ile | |
| ENST00000589042.5:c.43255G>A MANE Select | ENSP00000467141.1:p.Val14419Ile | |
| ENST00000591111.5:c.38332G>A | ENSP00000465570.1:p.Val12778Ile | |
| ENST00000615779.4:c.38332G>A | ENSP00000483597.1:p.Val12778Ile | |
| NM_001256850.1:c.38332G>A | NP_001243779.1:p.Val12778Ile | |
| NM_001267550.2:c.43255G>A MANE Select | NP_001254479.2:p.Val14419Ile | |
| NM_003319.4:c.16060G>A | NP_003310.4:p.Val5354Ile | |
| NM_133378.4:c.35551G>A | NP_596869.4:p.Val11851Ile | |
| NM_133432.3:c.16435G>A | NP_597676.3:p.Val5479Ile | |
| NM_133437.4:c.16636G>A | NP_597681.4:p.Val5546Ile | |
| XM_011511729.1:c.42352G>A | XP_011510031.1:p.Val14118Ile | |
| XM_011511730.1:c.16246G>A | XP_011510032.1:p.Val5416Ile | |
| XM_011511731.1:c.16105G>A | XP_011510033.1:p.Val5369Ile | |
| XM_017004819.1:c.42148G>A | XP_016860308.1:p.Val14050Ile | |
| XM_017004820.1:c.37546G>A | XP_016860309.1:p.Val12516Ile | |
| XM_017004821.1:c.37543G>A | XP_016860310.1:p.Val12515Ile | |
| XM_017004822.1:c.34585G>A | XP_016860311.1:p.Val11529Ile | |
| XM_017004823.1:c.16201G>A | XP_016860312.1:p.Val5401Ile | |
| XM_024453094.1:c.37696G>A | XP_024308862.1:p.Val12566Ile | |
| XM_024453095.1:c.37693G>A | XP_024308863.1:p.Val12565Ile | |
| XM_024453096.1:c.37126G>A | XP_024308864.1:p.Val12376Ile | |
| XM_024453097.1:c.34468G>A | XP_024308865.1:p.Val11490Ile | |
| XM_024453098.1:c.34387G>A | XP_024308866.1:p.Val11463Ile | |
| XM_024453099.1:c.16150G>A | XP_024308867.1:p.Val5384Ile | |
| XM_024453100.1:c.6004G>A | XP_024308868.1:p.Val2002Ile |