Linked Data
ClinVar Variation Id:
198043
dbSNP Id:
rs376456050
ExAC:
X:153609246 C / T
gnomAD v2:
X-153609246-C-T
gnomAD v3:
X-154380886-C-T
gnomAD v4:
X-154380886-C-T
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154380886C>T , CM000685.2:g.154380886C>T | GRCh38 |
| NC_000023.10:g.153609246C>T , CM000685.1:g.153609246C>T | GRCh37 |
| NC_000023.9:g.153262440C>T | NCBI36 |
| NG_008677.1:g.11451C>T , LRG_745:g.11451C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.454C>T | ENSP00000507245.1:p.Arg152Cys | |
| ENST00000682478.1:n.644C>T | ||
| ENST00000683576.1:n.644C>T | ||
| ENST00000683627.1:c.454C>T | ENSP00000507533.1:p.Arg152Cys | |
| ENST00000684082.1:c.411C>T | ENSP00000508266.1:n.411C>T | |
| ENST00000684633.1:n.426C>T | ||
| ENST00000684678.1:c.450C>T | ENSP00000507059.1:n.450C>T | |
| ENST00000369842.9:c.454C>T MANE Select | ENSP00000358857.4:p.Arg152Cys | |
| ENST00000369835.3:c.349C>T | ENSP00000358850.3:p.Arg117Cys | |
| ENST00000369842.8:c.454C>T | ENSP00000358857.4:p.Arg152Cys | |
| ENST00000428228.5:c.*359C>T | ENSP00000401081.1:n.*359C>T | |
| ENST00000468294.5:n.493C>T | ||
| ENST00000471965.1:n.243C>T | ||
| ENST00000485261.1:n.723C>T | ||
| ENST00000486738.5:n.891C>T | ||
| ENST00000492448.1:n.437C>T | ||
| NM_000117.2:c.454C>T , LRG_745t1:c.454C>T | NP_000108.1:p.Arg152Cys | |
| XM_024452349.1:c.460C>T | XP_024308117.1:p.Arg154Cys | |
| NM_000117.3:c.454C>T MANE Select | NP_000108.1:p.Arg152Cys |