Linked Data
ClinVar Variation Id:
513724
dbSNP Id:
rs571522834
ExAC:
2:179489194 A / G
gnomAD v2:
2-179489194-A-G
gnomAD v3:
2-178624467-A-G
gnomAD v4:
2-178624467-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178624467A>G , CM000664.2:g.178624467A>G | GRCh38 |
| NC_000002.11:g.179489194A>G , CM000664.1:g.179489194A>G | GRCh37 |
| NC_000002.10:g.179197439A>G | NCBI36 |
| NG_011618.3:g.211336T>C , LRG_391:g.211336T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.37109T>C | ENSP00000343764.6:p.Val12370Ala | |
| ENST00000342175.11:c.18194T>C | ENSP00000340554.6:p.Val6065Ala | |
| ENST00000359218.10:c.17993T>C | ENSP00000352154.5:p.Val5998Ala | |
| ENST00000342175.10:c.18194T>C | ENSP00000340554.6:p.Val6065Ala | |
| ENST00000342992.10:c.37109T>C | ENSP00000343764.6:p.Val12370Ala | |
| ENST00000359218.9:c.17993T>C | ENSP00000352154.5:p.Val5998Ala | |
| ENST00000460472.6:c.17618T>C | ENSP00000434586.1:p.Val5873Ala | |
| ENST00000589042.5:c.44813T>C MANE Select | ENSP00000467141.1:p.Val14938Ala | |
| ENST00000591111.5:c.39890T>C | ENSP00000465570.1:p.Val13297Ala | |
| ENST00000615779.4:c.39890T>C | ENSP00000483597.1:p.Val13297Ala | |
| NM_001256850.1:c.39890T>C | NP_001243779.1:p.Val13297Ala | |
| NM_001267550.2:c.44813T>C MANE Select | NP_001254479.2:p.Val14938Ala | |
| NM_003319.4:c.17618T>C | NP_003310.4:p.Val5873Ala | |
| NM_133378.4:c.37109T>C | NP_596869.4:p.Val12370Ala | |
| NM_133432.3:c.17993T>C | NP_597676.3:p.Val5998Ala | |
| NM_133437.4:c.18194T>C | NP_597681.4:p.Val6065Ala | |
| XM_011511729.1:c.43910T>C | XP_011510031.1:p.Val14637Ala | |
| XM_011511730.1:c.17804T>C | XP_011510032.1:p.Val5935Ala | |
| XM_011511731.1:c.17663T>C | XP_011510033.1:p.Val5888Ala | |
| XM_017004819.1:c.43706T>C | XP_016860308.1:p.Val14569Ala | |
| XM_017004820.1:c.39104T>C | XP_016860309.1:p.Val13035Ala | |
| XM_017004821.1:c.39101T>C | XP_016860310.1:p.Val13034Ala | |
| XM_017004822.1:c.36143T>C | XP_016860311.1:p.Val12048Ala | |
| XM_017004823.1:c.17759T>C | XP_016860312.1:p.Val5920Ala | |
| XM_024453094.1:c.39254T>C | XP_024308862.1:p.Val13085Ala | |
| XM_024453095.1:c.39251T>C | XP_024308863.1:p.Val13084Ala | |
| XM_024453096.1:c.38684T>C | XP_024308864.1:p.Val12895Ala | |
| XM_024453097.1:c.36026T>C | XP_024308865.1:p.Val12009Ala | |
| XM_024453098.1:c.35945T>C | XP_024308866.1:p.Val11982Ala | |
| XM_024453099.1:c.17708T>C | XP_024308867.1:p.Val5903Ala | |
| XM_024453100.1:c.7562T>C | XP_024308868.1:p.Val2521Ala |