Linked Data
ClinVar Variation Id:
194910
dbSNP Id:
rs200445568
ExAC:
2:179495608 G / A
gnomAD v2:
2-179495608-G-A
gnomAD v3:
2-178630881-G-A
gnomAD v4:
2-178630881-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178630881G>A , CM000664.2:g.178630881G>A | GRCh38 |
| NC_000002.11:g.179495608G>A , CM000664.1:g.179495608G>A | GRCh37 |
| NC_000002.10:g.179203853G>A | NCBI36 |
| NG_011618.3:g.204922C>T , LRG_391:g.204922C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.36373C>T | ENSP00000343764.6:p.Arg12125Cys | |
| ENST00000342175.11:c.17458C>T | ENSP00000340554.6:p.Arg5820Cys | |
| ENST00000359218.10:c.17257C>T | ENSP00000352154.5:p.Arg5753Cys | |
| ENST00000342175.10:c.17458C>T | ENSP00000340554.6:p.Arg5820Cys | |
| ENST00000342992.10:c.36373C>T | ENSP00000343764.6:p.Arg12125Cys | |
| ENST00000359218.9:c.17257C>T | ENSP00000352154.5:p.Arg5753Cys | |
| ENST00000460472.6:c.16882C>T | ENSP00000434586.1:p.Arg5628Cys | |
| ENST00000589042.5:c.44077C>T MANE Select | ENSP00000467141.1:p.Arg14693Cys | |
| ENST00000591111.5:c.39154C>T | ENSP00000465570.1:p.Arg13052Cys | |
| ENST00000615779.4:c.39154C>T | ENSP00000483597.1:p.Arg13052Cys | |
| NM_001256850.1:c.39154C>T | NP_001243779.1:p.Arg13052Cys | |
| NM_001267550.2:c.44077C>T MANE Select | NP_001254479.2:p.Arg14693Cys | |
| NM_003319.4:c.16882C>T | NP_003310.4:p.Arg5628Cys | |
| NM_133378.4:c.36373C>T | NP_596869.4:p.Arg12125Cys | |
| NM_133432.3:c.17257C>T | NP_597676.3:p.Arg5753Cys | |
| NM_133437.4:c.17458C>T | NP_597681.4:p.Arg5820Cys | |
| XM_011511729.1:c.43174C>T | XP_011510031.1:p.Arg14392Cys | |
| XM_011511730.1:c.17068C>T | XP_011510032.1:p.Arg5690Cys | |
| XM_011511731.1:c.16927C>T | XP_011510033.1:p.Arg5643Cys | |
| XM_017004819.1:c.42970C>T | XP_016860308.1:p.Arg14324Cys | |
| XM_017004820.1:c.38368C>T | XP_016860309.1:p.Arg12790Cys | |
| XM_017004821.1:c.38365C>T | XP_016860310.1:p.Arg12789Cys | |
| XM_017004822.1:c.35407C>T | XP_016860311.1:p.Arg11803Cys | |
| XM_017004823.1:c.17023C>T | XP_016860312.1:p.Arg5675Cys | |
| XM_024453094.1:c.38518C>T | XP_024308862.1:p.Arg12840Cys | |
| XM_024453095.1:c.38515C>T | XP_024308863.1:p.Arg12839Cys | |
| XM_024453096.1:c.37948C>T | XP_024308864.1:p.Arg12650Cys | |
| XM_024453097.1:c.35290C>T | XP_024308865.1:p.Arg11764Cys | |
| XM_024453098.1:c.35209C>T | XP_024308866.1:p.Arg11737Cys | |
| XM_024453099.1:c.16972C>T | XP_024308867.1:p.Arg5658Cys | |
| XM_024453100.1:c.6826C>T | XP_024308868.1:p.Arg2276Cys |