Linked Data
ClinVar Variation Id:
226034
ClinVar RCV Id:
RCV000211522
dbSNP Id:
rs878854407
gnomAD v4:
X-54814725-C-T
PubMed:
PMID:27120771
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54814725C>T , CM000685.2:g.54814725C>T | GRCh38 |
| NC_000023.10:g.54841158C>T , CM000685.1:g.54841158C>T | GRCh37 |
| NC_000023.9:g.54857883C>T | NCBI36 |
| NG_012844.1:g.11988C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375068.6:c.1336C>T MANE Select | ENSP00000364209.1:p.Arg446Cys | |
| ENST00000218439.8:c.1336C>T | ENSP00000218439.4:p.Arg446Cys | |
| ENST00000347546.8:c.1282C>T | ENSP00000336962.4:p.Arg428Cys | |
| ENST00000375053.6:c.1336C>T | ENSP00000364193.2:p.Arg446Cys | |
| ENST00000375058.5:c.1336C>T | ENSP00000364198.1:p.Arg446Cys | |
| ENST00000375060.5:c.1081C>T | ENSP00000364200.1:p.Arg361Cys | |
| ENST00000375068.5:c.1336C>T | ENSP00000364209.1:p.Arg446Cys | |
| ENST00000396224.1:c.1336C>T | ENSP00000379526.1:p.Arg446Cys | |
| ENST00000627068.2:c.1081C>T | ENSP00000486563.1:p.Arg361Cys | |
| NM_014599.5:c.1336C>T | NP_055414.2:p.Arg446Cys | |
| NM_177433.2:c.1336C>T | NP_803182.1:p.Arg446Cys | |
| NM_201222.2:c.1336C>T | NP_957516.1:p.Arg446Cys | |
| NM_177433.3:c.1336C>T MANE Select | NP_803182.1:p.Arg446Cys | |
| NM_014599.6:c.1336C>T | NP_055414.2:p.Arg446Cys | |
| NM_201222.3:c.1336C>T | NP_957516.1:p.Arg446Cys |