Linked Data
ClinVar Variation Id:
2717508
ClinVar RCV Id:
RCV003590686
dbSNP Id:
rs201913823
ExAC:
17:7357834 C / T
gnomAD v2:
17-7357834-C-T
gnomAD v3:
17-7454515-C-T
gnomAD v4:
17-7454515-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454515C>T , CM000679.2:g.7454515C>T | GRCh38 |
| NC_000017.10:g.7357834C>T , CM000679.1:g.7357834C>T | GRCh37 |
| NC_000017.9:g.7298558C>T | NCBI36 |
| NG_008026.1:g.14429C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1039C>T MANE Select | ENSP00000304290.2:p.Arg347Cys | |
| ENST00000306071.6:c.1039C>T | ENSP00000304290.2:p.Arg347Cys | |
| ENST00000536404.6:c.823C>T | ENSP00000439209.2:p.Arg275Cys | |
| ENST00000570557.5:c.702C>T | ||
| ENST00000573209.1:n.1983C>T | ||
| ENST00000576360.1:c.676C>T | ENSP00000459092.1:p.Arg226Cys | |
| NM_000747.2:c.1039C>T | NP_000738.2:p.Arg347Cys | |
| NM_000747.3:c.1039C>T MANE Select | NP_000738.2:p.Arg347Cys |