Linked Data
ClinVar Variation Id:
46955
ClinVar RCV Id:
RCV000040225
RCV000172337
RCV000294831
RCV000328437
RCV000343733
RCV000383259
RCV000399696
RCV000618332
RCV001079995
RCV002225277
dbSNP Id:
rs34706299
ExAC:
2:179499179 A / G
gnomAD v2:
2-179499179-A-G
gnomAD v3:
2-178634452-A-G
gnomAD v4:
2-178634452-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178634452A>G , CM000664.2:g.178634452A>G | GRCh38 |
| NC_000002.11:g.179499179A>G , CM000664.1:g.179499179A>G | GRCh37 |
| NC_000002.10:g.179207424A>G | NCBI36 |
| NG_011618.3:g.201351T>C , LRG_391:g.201351T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.34625T>C | ENSP00000343764.6:p.Val11542Ala | |
| ENST00000342175.11:c.15710T>C | ENSP00000340554.6:p.Val5237Ala | |
| ENST00000359218.10:c.15509T>C | ENSP00000352154.5:p.Val5170Ala | |
| ENST00000342175.10:c.15710T>C | ENSP00000340554.6:p.Val5237Ala | |
| ENST00000342992.10:c.34625T>C | ENSP00000343764.6:p.Val11542Ala | |
| ENST00000359218.9:c.15509T>C | ENSP00000352154.5:p.Val5170Ala | |
| ENST00000460472.6:c.15134T>C | ENSP00000434586.1:p.Val5045Ala | |
| ENST00000589042.5:c.42329T>C MANE Select | ENSP00000467141.1:p.Val14110Ala | |
| ENST00000591111.5:c.37406T>C | ENSP00000465570.1:p.Val12469Ala | |
| ENST00000615779.4:c.37406T>C | ENSP00000483597.1:p.Val12469Ala | |
| NM_001256850.1:c.37406T>C | NP_001243779.1:p.Val12469Ala | |
| NM_001267550.2:c.42329T>C MANE Select | NP_001254479.2:p.Val14110Ala | |
| NM_003319.4:c.15134T>C | NP_003310.4:p.Val5045Ala | |
| NM_133378.4:c.34625T>C | NP_596869.4:p.Val11542Ala | |
| NM_133432.3:c.15509T>C | NP_597676.3:p.Val5170Ala | |
| NM_133437.4:c.15710T>C | NP_597681.4:p.Val5237Ala | |
| XM_011511729.1:c.41426T>C | XP_011510031.1:p.Val13809Ala | |
| XM_011511730.1:c.15320T>C | XP_011510032.1:p.Val5107Ala | |
| XM_011511731.1:c.15179T>C | XP_011510033.1:p.Val5060Ala | |
| XM_017004819.1:c.41222T>C | XP_016860308.1:p.Val13741Ala | |
| XM_017004820.1:c.36620T>C | XP_016860309.1:p.Val12207Ala | |
| XM_017004821.1:c.36617T>C | XP_016860310.1:p.Val12206Ala | |
| XM_017004822.1:c.33659T>C | XP_016860311.1:p.Val11220Ala | |
| XM_017004823.1:c.15275T>C | XP_016860312.1:p.Val5092Ala | |
| XM_024453094.1:c.36770T>C | XP_024308862.1:p.Val12257Ala | |
| XM_024453095.1:c.36767T>C | XP_024308863.1:p.Val12256Ala | |
| XM_024453096.1:c.36200T>C | XP_024308864.1:p.Val12067Ala | |
| XM_024453097.1:c.33542T>C | XP_024308865.1:p.Val11181Ala | |
| XM_024453098.1:c.33461T>C | XP_024308866.1:p.Val11154Ala | |
| XM_024453099.1:c.15224T>C | XP_024308867.1:p.Val5075Ala | |
| XM_024453100.1:c.5078T>C | XP_024308868.1:p.Val1693Ala |