Linked Data
ClinVar Variation Id:
448795
dbSNP Id:
rs200914097
ExAC:
2:179497418 G / A
gnomAD v2:
2-179497418-G-A
gnomAD v3:
2-178632691-G-A
gnomAD v4:
2-178632691-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178632691G>A , CM000664.2:g.178632691G>A | GRCh38 |
| NC_000002.11:g.179497418G>A , CM000664.1:g.179497418G>A | GRCh37 |
| NC_000002.10:g.179205663G>A | NCBI36 |
| NG_011618.3:g.203112C>T , LRG_391:g.203112C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.35611C>T | ENSP00000343764.6:p.Arg11871Cys | |
| ENST00000342175.11:c.16696C>T | ENSP00000340554.6:p.Arg5566Cys | |
| ENST00000359218.10:c.16495C>T | ENSP00000352154.5:p.Arg5499Cys | |
| ENST00000342175.10:c.16696C>T | ENSP00000340554.6:p.Arg5566Cys | |
| ENST00000342992.10:c.35611C>T | ENSP00000343764.6:p.Arg11871Cys | |
| ENST00000359218.9:c.16495C>T | ENSP00000352154.5:p.Arg5499Cys | |
| ENST00000460472.6:c.16120C>T | ENSP00000434586.1:p.Arg5374Cys | |
| ENST00000589042.5:c.43315C>T MANE Select | ENSP00000467141.1:p.Arg14439Cys | |
| ENST00000591111.5:c.38392C>T | ENSP00000465570.1:p.Arg12798Cys | |
| ENST00000615779.4:c.38392C>T | ENSP00000483597.1:p.Arg12798Cys | |
| NM_001256850.1:c.38392C>T | NP_001243779.1:p.Arg12798Cys | |
| NM_001267550.2:c.43315C>T MANE Select | NP_001254479.2:p.Arg14439Cys | |
| NM_003319.4:c.16120C>T | NP_003310.4:p.Arg5374Cys | |
| NM_133378.4:c.35611C>T | NP_596869.4:p.Arg11871Cys | |
| NM_133432.3:c.16495C>T | NP_597676.3:p.Arg5499Cys | |
| NM_133437.4:c.16696C>T | NP_597681.4:p.Arg5566Cys | |
| XM_011511729.1:c.42412C>T | XP_011510031.1:p.Arg14138Cys | |
| XM_011511730.1:c.16306C>T | XP_011510032.1:p.Arg5436Cys | |
| XM_011511731.1:c.16165C>T | XP_011510033.1:p.Arg5389Cys | |
| XM_017004819.1:c.42208C>T | XP_016860308.1:p.Arg14070Cys | |
| XM_017004820.1:c.37606C>T | XP_016860309.1:p.Arg12536Cys | |
| XM_017004821.1:c.37603C>T | XP_016860310.1:p.Arg12535Cys | |
| XM_017004822.1:c.34645C>T | XP_016860311.1:p.Arg11549Cys | |
| XM_017004823.1:c.16261C>T | XP_016860312.1:p.Arg5421Cys | |
| XM_024453094.1:c.37756C>T | XP_024308862.1:p.Arg12586Cys | |
| XM_024453095.1:c.37753C>T | XP_024308863.1:p.Arg12585Cys | |
| XM_024453096.1:c.37186C>T | XP_024308864.1:p.Arg12396Cys | |
| XM_024453097.1:c.34528C>T | XP_024308865.1:p.Arg11510Cys | |
| XM_024453098.1:c.34447C>T | XP_024308866.1:p.Arg11483Cys | |
| XM_024453099.1:c.16210C>T | XP_024308867.1:p.Arg5404Cys | |
| XM_024453100.1:c.6064C>T | XP_024308868.1:p.Arg2022Cys |