Linked Data
ClinVar Variation Id:
282666
dbSNP Id:
rs886042449
gnomAD v2:
2-179495870-T-G
gnomAD v4:
2-178631143-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178631143T>G , CM000664.2:g.178631143T>G | GRCh38 |
| NC_000002.11:g.179495870T>G , CM000664.1:g.179495870T>G | GRCh37 |
| NC_000002.10:g.179204115T>G | NCBI36 |
| NG_011618.3:g.204660A>C , LRG_391:g.204660A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.36201A>C | ENSP00000343764.6:p.Ala12067= | |
| ENST00000342175.11:c.17286A>C | ENSP00000340554.6:p.Ala5762= | |
| ENST00000359218.10:c.17085A>C | ENSP00000352154.5:p.Ala5695= | |
| ENST00000342175.10:c.17286A>C | ENSP00000340554.6:p.Ala5762= | |
| ENST00000342992.10:c.36201A>C | ENSP00000343764.6:p.Ala12067= | |
| ENST00000359218.9:c.17085A>C | ENSP00000352154.5:p.Ala5695= | |
| ENST00000460472.6:c.16710A>C | ENSP00000434586.1:p.Ala5570= | |
| ENST00000589042.5:c.43905A>C MANE Select | ENSP00000467141.1:p.Ala14635= | |
| ENST00000591111.5:c.38982A>C | ENSP00000465570.1:p.Ala12994= | |
| ENST00000615779.4:c.38982A>C | ENSP00000483597.1:p.Ala12994= | |
| NM_001256850.1:c.38982A>C | NP_001243779.1:p.Ala12994= | |
| NM_001267550.2:c.43905A>C MANE Select | NP_001254479.2:p.Ala14635= | |
| NM_003319.4:c.16710A>C | NP_003310.4:p.Ala5570= | |
| NM_133378.4:c.36201A>C | NP_596869.4:p.Ala12067= | |
| NM_133432.3:c.17085A>C | NP_597676.3:p.Ala5695= | |
| NM_133437.4:c.17286A>C | NP_597681.4:p.Ala5762= | |
| XM_011511729.1:c.43002A>C | XP_011510031.1:p.Ala14334= | |
| XM_011511730.1:c.16896A>C | XP_011510032.1:p.Ala5632= | |
| XM_011511731.1:c.16755A>C | XP_011510033.1:p.Ala5585= | |
| XM_017004819.1:c.42798A>C | XP_016860308.1:p.Ala14266= | |
| XM_017004820.1:c.38196A>C | XP_016860309.1:p.Ala12732= | |
| XM_017004821.1:c.38193A>C | XP_016860310.1:p.Ala12731= | |
| XM_017004822.1:c.35235A>C | XP_016860311.1:p.Ala11745= | |
| XM_017004823.1:c.16851A>C | XP_016860312.1:p.Ala5617= | |
| XM_024453094.1:c.38346A>C | XP_024308862.1:p.Ala12782= | |
| XM_024453095.1:c.38343A>C | XP_024308863.1:p.Ala12781= | |
| XM_024453096.1:c.37776A>C | XP_024308864.1:p.Ala12592= | |
| XM_024453097.1:c.35118A>C | XP_024308865.1:p.Ala11706= | |
| XM_024453098.1:c.35037A>C | XP_024308866.1:p.Ala11679= | |
| XM_024453099.1:c.16800A>C | XP_024308867.1:p.Ala5600= | |
| XM_024453100.1:c.6654A>C | XP_024308868.1:p.Ala2218= |