Linked Data
ClinVar Variation Id:
535373
dbSNP Id:
rs759373140
ExAC:
2:179490006 C / T
gnomAD v2:
2-179490006-C-T
gnomAD v3:
2-178625279-C-T
gnomAD v4:
2-178625279-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178625279C>T , CM000664.2:g.178625279C>T | GRCh38 |
| NC_000002.11:g.179490006C>T , CM000664.1:g.179490006C>T | GRCh37 |
| NC_000002.10:g.179198251C>T | NCBI36 |
| NG_011618.3:g.210524G>A , LRG_391:g.210524G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.36838G>A | ENSP00000343764.6:p.Val12280Met | |
| ENST00000342175.11:c.17923G>A | ENSP00000340554.6:p.Val5975Met | |
| ENST00000359218.10:c.17722G>A | ENSP00000352154.5:p.Val5908Met | |
| ENST00000342175.10:c.17923G>A | ENSP00000340554.6:p.Val5975Met | |
| ENST00000342992.10:c.36838G>A | ENSP00000343764.6:p.Val12280Met | |
| ENST00000359218.9:c.17722G>A | ENSP00000352154.5:p.Val5908Met | |
| ENST00000460472.6:c.17347G>A | ENSP00000434586.1:p.Val5783Met | |
| ENST00000589042.5:c.44542G>A MANE Select | ENSP00000467141.1:p.Val14848Met | |
| ENST00000591111.5:c.39619G>A | ENSP00000465570.1:p.Val13207Met | |
| ENST00000615779.4:c.39619G>A | ENSP00000483597.1:p.Val13207Met | |
| NM_001256850.1:c.39619G>A | NP_001243779.1:p.Val13207Met | |
| NM_001267550.2:c.44542G>A MANE Select | NP_001254479.2:p.Val14848Met | |
| NM_003319.4:c.17347G>A | NP_003310.4:p.Val5783Met | |
| NM_133378.4:c.36838G>A | NP_596869.4:p.Val12280Met | |
| NM_133432.3:c.17722G>A | NP_597676.3:p.Val5908Met | |
| NM_133437.4:c.17923G>A | NP_597681.4:p.Val5975Met | |
| XM_011511729.1:c.43639G>A | XP_011510031.1:p.Val14547Met | |
| XM_011511730.1:c.17533G>A | XP_011510032.1:p.Val5845Met | |
| XM_011511731.1:c.17392G>A | XP_011510033.1:p.Val5798Met | |
| XM_017004819.1:c.43435G>A | XP_016860308.1:p.Val14479Met | |
| XM_017004820.1:c.38833G>A | XP_016860309.1:p.Val12945Met | |
| XM_017004821.1:c.38830G>A | XP_016860310.1:p.Val12944Met | |
| XM_017004822.1:c.35872G>A | XP_016860311.1:p.Val11958Met | |
| XM_017004823.1:c.17488G>A | XP_016860312.1:p.Val5830Met | |
| XM_024453094.1:c.38983G>A | XP_024308862.1:p.Val12995Met | |
| XM_024453095.1:c.38980G>A | XP_024308863.1:p.Val12994Met | |
| XM_024453096.1:c.38413G>A | XP_024308864.1:p.Val12805Met | |
| XM_024453097.1:c.35755G>A | XP_024308865.1:p.Val11919Met | |
| XM_024453098.1:c.35674G>A | XP_024308866.1:p.Val11892Met | |
| XM_024453099.1:c.17437G>A | XP_024308867.1:p.Val5813Met | |
| XM_024453100.1:c.7291G>A | XP_024308868.1:p.Val2431Met |