Linked Data
ClinVar Variation Id:
498195
dbSNP Id:
rs766397292
ExAC:
2:179500273 A / G
gnomAD v2:
2-179500273-A-G
gnomAD v3:
2-178635546-A-G
gnomAD v4:
2-178635546-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178635546A>G , CM000664.2:g.178635546A>G | GRCh38 |
| NC_000002.11:g.179500273A>G , CM000664.1:g.179500273A>G | GRCh37 |
| NC_000002.10:g.179208518A>G | NCBI36 |
| NG_011618.3:g.200257T>C , LRG_391:g.200257T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.34074T>C | ENSP00000343764.6:p.Asp11358= | |
| ENST00000342175.11:c.15159T>C | ENSP00000340554.6:p.Asp5053= | |
| ENST00000359218.10:c.14958T>C | ENSP00000352154.5:p.Asp4986= | |
| ENST00000342175.10:c.15159T>C | ENSP00000340554.6:p.Asp5053= | |
| ENST00000342992.10:c.34074T>C | ENSP00000343764.6:p.Asp11358= | |
| ENST00000359218.9:c.14958T>C | ENSP00000352154.5:p.Asp4986= | |
| ENST00000460472.6:c.14583T>C | ENSP00000434586.1:p.Asp4861= | |
| ENST00000589042.5:c.41778T>C MANE Select | ENSP00000467141.1:p.Asp13926= | |
| ENST00000591111.5:c.36855T>C | ENSP00000465570.1:p.Asp12285= | |
| ENST00000615779.4:c.36855T>C | ENSP00000483597.1:p.Asp12285= | |
| NM_001256850.1:c.36855T>C | NP_001243779.1:p.Asp12285= | |
| NM_001267550.2:c.41778T>C MANE Select | NP_001254479.2:p.Asp13926= | |
| NM_003319.4:c.14583T>C | NP_003310.4:p.Asp4861= | |
| NM_133378.4:c.34074T>C | NP_596869.4:p.Asp11358= | |
| NM_133432.3:c.14958T>C | NP_597676.3:p.Asp4986= | |
| NM_133437.4:c.15159T>C | NP_597681.4:p.Asp5053= | |
| XM_011511729.1:c.40875T>C | XP_011510031.1:p.Asp13625= | |
| XM_011511730.1:c.14769T>C | XP_011510032.1:p.Asp4923= | |
| XM_011511731.1:c.14628T>C | XP_011510033.1:p.Asp4876= | |
| XM_017004819.1:c.40671T>C | XP_016860308.1:p.Asp13557= | |
| XM_017004820.1:c.36069T>C | XP_016860309.1:p.Asp12023= | |
| XM_017004821.1:c.36066T>C | XP_016860310.1:p.Asp12022= | |
| XM_017004822.1:c.33108T>C | XP_016860311.1:p.Asp11036= | |
| XM_017004823.1:c.14724T>C | XP_016860312.1:p.Asp4908= | |
| XM_024453094.1:c.36219T>C | XP_024308862.1:p.Asp12073= | |
| XM_024453095.1:c.36216T>C | XP_024308863.1:p.Asp12072= | |
| XM_024453096.1:c.35649T>C | XP_024308864.1:p.Asp11883= | |
| XM_024453097.1:c.32991T>C | XP_024308865.1:p.Asp10997= | |
| XM_024453098.1:c.32910T>C | XP_024308866.1:p.Asp10970= | |
| XM_024453099.1:c.14673T>C | XP_024308867.1:p.Asp4891= | |
| XM_024453100.1:c.4527T>C | XP_024308868.1:p.Asp1509= |