Linked Data
ClinVar Variation Id:
10584
dbSNP Id:
rs137852237
ExAC:
X:138633271 C / T
gnomAD v2:
X-138633271-C-T
PubMed:
PMID:2775660
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139551112C>T , CM000685.2:g.139551112C>T | GRCh38 |
| NC_000023.10:g.138633271C>T , CM000685.1:g.138633271C>T | GRCh37 |
| NC_000023.9:g.138460937C>T | NCBI36 |
| NG_007994.1:g.25377C>T , LRG_556:g.25377C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.571C>T MANE Select | ENSP00000218099.2:p.Arg191Cys | |
| ENST00000643157.1:n.1238C>T | ||
| ENST00000218099.6:c.571C>T | ENSP00000218099.2:p.Arg191Cys | |
| ENST00000394090.2:c.457C>T | ENSP00000377650.2:p.Arg153Cys | |
| NM_000133.3:c.571C>T , LRG_556t1:c.571C>T | NP_000124.1:p.Arg191Cys | |
| NM_001313913.1:c.457C>T | NP_001300842.1:p.Arg153Cys | |
| XM_005262397.3:c.442C>T | XP_005262454.1:p.Arg148Cys | |
| XM_005262397.4:c.442C>T | XP_005262454.1:p.Arg148Cys | |
| NM_000133.4:c.571C>T MANE Select | NP_000124.1:p.Arg191Cys | |
| NM_001313913.2:c.457C>T | NP_001300842.1:p.Arg153Cys |