Linked Data
ClinVar Variation Id:
223308
dbSNP Id:
rs368200299
gnomAD v4:
2-178620285-G-T
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178620285G>T , CM000664.2:g.178620285G>T | GRCh38 |
| NC_000002.11:g.179485012G>T , CM000664.1:g.179485012G>T | GRCh37 |
| NC_000002.10:g.179193257G>T | NCBI36 |
| NG_011618.3:g.215518C>A , LRG_391:g.215518C>A | |
| NG_051363.1:g.102459G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.38532C>A | ENSP00000343764.6:p.Cys12844Ter | |
| ENST00000342175.11:c.19617C>A | ENSP00000340554.6:p.Cys6539Ter | |
| ENST00000359218.10:c.19416C>A | ENSP00000352154.5:p.Cys6472Ter | |
| ENST00000342175.10:c.19617C>A | ENSP00000340554.6:p.Cys6539Ter | |
| ENST00000342992.10:c.38532C>A | ENSP00000343764.6:p.Cys12844Ter | |
| ENST00000359218.9:c.19416C>A | ENSP00000352154.5:p.Cys6472Ter | |
| ENST00000460472.6:c.19041C>A | ENSP00000434586.1:p.Cys6347Ter | |
| ENST00000589042.5:c.46236C>A MANE Select | ENSP00000467141.1:p.Cys15412Ter | |
| ENST00000591111.5:c.41313C>A | ENSP00000465570.1:p.Cys13771Ter | |
| ENST00000615779.4:c.41313C>A | ENSP00000483597.1:p.Cys13771Ter | |
| NM_001256850.1:c.41313C>A | NP_001243779.1:p.Cys13771Ter | |
| NM_001267550.2:c.46236C>A MANE Select | NP_001254479.2:p.Cys15412Ter | |
| NM_003319.4:c.19041C>A | NP_003310.4:p.Cys6347Ter | |
| NM_133378.4:c.38532C>A | NP_596869.4:p.Cys12844Ter | |
| NM_133432.3:c.19416C>A | NP_597676.3:p.Cys6472Ter | |
| NM_133437.4:c.19617C>A | NP_597681.4:p.Cys6539Ter | |
| XM_011511729.1:c.45333C>A | XP_011510031.1:p.Cys15111Ter | |
| XM_011511730.1:c.19227C>A | XP_011510032.1:p.Cys6409Ter | |
| XM_011511731.1:c.19086C>A | XP_011510033.1:p.Cys6362Ter | |
| XM_017004819.1:c.45129C>A | XP_016860308.1:p.Cys15043Ter | |
| XM_017004820.1:c.40527C>A | XP_016860309.1:p.Cys13509Ter | |
| XM_017004821.1:c.40524C>A | XP_016860310.1:p.Cys13508Ter | |
| XM_017004822.1:c.37566C>A | XP_016860311.1:p.Cys12522Ter | |
| XM_017004823.1:c.19182C>A | XP_016860312.1:p.Cys6394Ter | |
| XM_024453094.1:c.40677C>A | XP_024308862.1:p.Cys13559Ter | |
| XM_024453095.1:c.40674C>A | XP_024308863.1:p.Cys13558Ter | |
| XM_024453096.1:c.40107C>A | XP_024308864.1:p.Cys13369Ter | |
| XM_024453097.1:c.37449C>A | XP_024308865.1:p.Cys12483Ter | |
| XM_024453098.1:c.37368C>A | XP_024308866.1:p.Cys12456Ter | |
| XM_024453099.1:c.19131C>A | XP_024308867.1:p.Cys6377Ter | |
| XM_024453100.1:c.8985C>A | XP_024308868.1:p.Cys2995Ter |