Linked Data
ClinVar Variation Id:
264603
ClinVar RCV Id:
RCV000250887
RCV000592811
RCV001128764
RCV001131402
RCV001131401
RCV001089323
RCV001128766
RCV001128765
dbSNP Id:
rs756282138
ExAC:
2:179500348 A / G
gnomAD v2:
2-179500348-A-G
gnomAD v3:
2-178635621-A-G
gnomAD v4:
2-178635621-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178635621A>G , CM000664.2:g.178635621A>G | GRCh38 |
| NC_000002.11:g.179500348A>G , CM000664.1:g.179500348A>G | GRCh37 |
| NC_000002.10:g.179208593A>G | NCBI36 |
| NG_011618.3:g.200182T>C , LRG_391:g.200182T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.33999T>C | ENSP00000343764.6:p.Thr11333= | |
| ENST00000342175.11:c.15084T>C | ENSP00000340554.6:p.Thr5028= | |
| ENST00000359218.10:c.14883T>C | ENSP00000352154.5:p.Thr4961= | |
| ENST00000342175.10:c.15084T>C | ENSP00000340554.6:p.Thr5028= | |
| ENST00000342992.10:c.33999T>C | ENSP00000343764.6:p.Thr11333= | |
| ENST00000359218.9:c.14883T>C | ENSP00000352154.5:p.Thr4961= | |
| ENST00000460472.6:c.14508T>C | ENSP00000434586.1:p.Thr4836= | |
| ENST00000589042.5:c.41703T>C MANE Select | ENSP00000467141.1:p.Thr13901= | |
| ENST00000591111.5:c.36780T>C | ENSP00000465570.1:p.Thr12260= | |
| ENST00000615779.4:c.36780T>C | ENSP00000483597.1:p.Thr12260= | |
| NM_001256850.1:c.36780T>C | NP_001243779.1:p.Thr12260= | |
| NM_001267550.2:c.41703T>C MANE Select | NP_001254479.2:p.Thr13901= | |
| NM_003319.4:c.14508T>C | NP_003310.4:p.Thr4836= | |
| NM_133378.4:c.33999T>C | NP_596869.4:p.Thr11333= | |
| NM_133432.3:c.14883T>C | NP_597676.3:p.Thr4961= | |
| NM_133437.4:c.15084T>C | NP_597681.4:p.Thr5028= | |
| XM_011511729.1:c.40800T>C | XP_011510031.1:p.Thr13600= | |
| XM_011511730.1:c.14694T>C | XP_011510032.1:p.Thr4898= | |
| XM_011511731.1:c.14553T>C | XP_011510033.1:p.Thr4851= | |
| XM_017004819.1:c.40596T>C | XP_016860308.1:p.Thr13532= | |
| XM_017004820.1:c.35994T>C | XP_016860309.1:p.Thr11998= | |
| XM_017004821.1:c.35991T>C | XP_016860310.1:p.Thr11997= | |
| XM_017004822.1:c.33033T>C | XP_016860311.1:p.Thr11011= | |
| XM_017004823.1:c.14649T>C | XP_016860312.1:p.Thr4883= | |
| XM_024453094.1:c.36144T>C | XP_024308862.1:p.Thr12048= | |
| XM_024453095.1:c.36141T>C | XP_024308863.1:p.Thr12047= | |
| XM_024453096.1:c.35574T>C | XP_024308864.1:p.Thr11858= | |
| XM_024453097.1:c.32916T>C | XP_024308865.1:p.Thr10972= | |
| XM_024453098.1:c.32835T>C | XP_024308866.1:p.Thr10945= | |
| XM_024453099.1:c.14598T>C | XP_024308867.1:p.Thr4866= | |
| XM_024453100.1:c.4452T>C | XP_024308868.1:p.Thr1484= |