Linked Data
ClinVar Variation Id:
179460
dbSNP Id:
rs557125278
ExAC:
2:179497720 A / G
gnomAD v2:
2-179497720-A-G
gnomAD v3:
2-178632993-A-G
gnomAD v4:
2-178632993-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178632993A>G , CM000664.2:g.178632993A>G | GRCh38 |
| NC_000002.11:g.179497720A>G , CM000664.1:g.179497720A>G | GRCh37 |
| NC_000002.10:g.179205965A>G | NCBI36 |
| NG_011618.3:g.202810T>C , LRG_391:g.202810T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.35434T>C | ENSP00000343764.6:p.Cys11812Arg | |
| ENST00000342175.11:c.16519T>C | ENSP00000340554.6:p.Cys5507Arg | |
| ENST00000359218.10:c.16318T>C | ENSP00000352154.5:p.Cys5440Arg | |
| ENST00000342175.10:c.16519T>C | ENSP00000340554.6:p.Cys5507Arg | |
| ENST00000342992.10:c.35434T>C | ENSP00000343764.6:p.Cys11812Arg | |
| ENST00000359218.9:c.16318T>C | ENSP00000352154.5:p.Cys5440Arg | |
| ENST00000460472.6:c.15943T>C | ENSP00000434586.1:p.Cys5315Arg | |
| ENST00000589042.5:c.43138T>C MANE Select | ENSP00000467141.1:p.Cys14380Arg | |
| ENST00000591111.5:c.38215T>C | ENSP00000465570.1:p.Cys12739Arg | |
| ENST00000615779.4:c.38215T>C | ENSP00000483597.1:p.Cys12739Arg | |
| NM_001256850.1:c.38215T>C | NP_001243779.1:p.Cys12739Arg | |
| NM_001267550.2:c.43138T>C MANE Select | NP_001254479.2:p.Cys14380Arg | |
| NM_003319.4:c.15943T>C | NP_003310.4:p.Cys5315Arg | |
| NM_133378.4:c.35434T>C | NP_596869.4:p.Cys11812Arg | |
| NM_133432.3:c.16318T>C | NP_597676.3:p.Cys5440Arg | |
| NM_133437.4:c.16519T>C | NP_597681.4:p.Cys5507Arg | |
| XM_011511729.1:c.42235T>C | XP_011510031.1:p.Cys14079Arg | |
| XM_011511730.1:c.16129T>C | XP_011510032.1:p.Cys5377Arg | |
| XM_011511731.1:c.15988T>C | XP_011510033.1:p.Cys5330Arg | |
| XM_017004819.1:c.42031T>C | XP_016860308.1:p.Cys14011Arg | |
| XM_017004820.1:c.37429T>C | XP_016860309.1:p.Cys12477Arg | |
| XM_017004821.1:c.37426T>C | XP_016860310.1:p.Cys12476Arg | |
| XM_017004822.1:c.34468T>C | XP_016860311.1:p.Cys11490Arg | |
| XM_017004823.1:c.16084T>C | XP_016860312.1:p.Cys5362Arg | |
| XM_024453094.1:c.37579T>C | XP_024308862.1:p.Cys12527Arg | |
| XM_024453095.1:c.37576T>C | XP_024308863.1:p.Cys12526Arg | |
| XM_024453096.1:c.37009T>C | XP_024308864.1:p.Cys12337Arg | |
| XM_024453097.1:c.34351T>C | XP_024308865.1:p.Cys11451Arg | |
| XM_024453098.1:c.34270T>C | XP_024308866.1:p.Cys11424Arg | |
| XM_024453099.1:c.16033T>C | XP_024308867.1:p.Cys5345Arg | |
| XM_024453100.1:c.5887T>C | XP_024308868.1:p.Cys1963Arg |