Linked Data
ClinVar Variation Id:
497009
ClinVar RCV Id:
RCV000597605
RCV001131044
RCV001131043
RCV001131045
RCV001130347
RCV002061996
RCV001130348
RCV002404597
dbSNP Id:
rs765214404
ExAC:
2:179497697 C / T
gnomAD v2:
2-179497697-C-T
gnomAD v3:
2-178632970-C-T
gnomAD v4:
2-178632970-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178632970C>T , CM000664.2:g.178632970C>T | GRCh38 |
| NC_000002.11:g.179497697C>T , CM000664.1:g.179497697C>T | GRCh37 |
| NC_000002.10:g.179205942C>T | NCBI36 |
| NG_011618.3:g.202833G>A , LRG_391:g.202833G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.35457G>A | ENSP00000343764.6:p.Glu11819= | |
| ENST00000342175.11:c.16542G>A | ENSP00000340554.6:p.Glu5514= | |
| ENST00000359218.10:c.16341G>A | ENSP00000352154.5:p.Glu5447= | |
| ENST00000342175.10:c.16542G>A | ENSP00000340554.6:p.Glu5514= | |
| ENST00000342992.10:c.35457G>A | ENSP00000343764.6:p.Glu11819= | |
| ENST00000359218.9:c.16341G>A | ENSP00000352154.5:p.Glu5447= | |
| ENST00000460472.6:c.15966G>A | ENSP00000434586.1:p.Glu5322= | |
| ENST00000589042.5:c.43161G>A MANE Select | ENSP00000467141.1:p.Glu14387= | |
| ENST00000591111.5:c.38238G>A | ENSP00000465570.1:p.Glu12746= | |
| ENST00000615779.4:c.38238G>A | ENSP00000483597.1:p.Glu12746= | |
| NM_001256850.1:c.38238G>A | NP_001243779.1:p.Glu12746= | |
| NM_001267550.2:c.43161G>A MANE Select | NP_001254479.2:p.Glu14387= | |
| NM_003319.4:c.15966G>A | NP_003310.4:p.Glu5322= | |
| NM_133378.4:c.35457G>A | NP_596869.4:p.Glu11819= | |
| NM_133432.3:c.16341G>A | NP_597676.3:p.Glu5447= | |
| NM_133437.4:c.16542G>A | NP_597681.4:p.Glu5514= | |
| XM_011511729.1:c.42258G>A | XP_011510031.1:p.Glu14086= | |
| XM_011511730.1:c.16152G>A | XP_011510032.1:p.Glu5384= | |
| XM_011511731.1:c.16011G>A | XP_011510033.1:p.Glu5337= | |
| XM_017004819.1:c.42054G>A | XP_016860308.1:p.Glu14018= | |
| XM_017004820.1:c.37452G>A | XP_016860309.1:p.Glu12484= | |
| XM_017004821.1:c.37449G>A | XP_016860310.1:p.Glu12483= | |
| XM_017004822.1:c.34491G>A | XP_016860311.1:p.Glu11497= | |
| XM_017004823.1:c.16107G>A | XP_016860312.1:p.Glu5369= | |
| XM_024453094.1:c.37602G>A | XP_024308862.1:p.Glu12534= | |
| XM_024453095.1:c.37599G>A | XP_024308863.1:p.Glu12533= | |
| XM_024453096.1:c.37032G>A | XP_024308864.1:p.Glu12344= | |
| XM_024453097.1:c.34374G>A | XP_024308865.1:p.Glu11458= | |
| XM_024453098.1:c.34293G>A | XP_024308866.1:p.Glu11431= | |
| XM_024453099.1:c.16056G>A | XP_024308867.1:p.Glu5352= | |
| XM_024453100.1:c.5910G>A | XP_024308868.1:p.Glu1970= |