Linked Data
ClinVar Variation Id:
12482
ClinVar RCV Id:
RCV000013300
dbSNP Id:
rs121918728
PubMed:
PMID:11298529
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24261724G>C , CM000676.2:g.24261724G>C | GRCh38 |
| NC_000014.8:g.24730930G>C , CM000676.1:g.24730930G>C | GRCh37 |
| NC_000014.7:g.23800770G>C | NCBI36 |
| NG_007150.1:g.6443C>G | |
| NG_007150.2:g.6443C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000206765.11:c.479C>G MANE Select | ENSP00000206765.6:p.Ser160Cys | |
| ENST00000206765.10:c.479C>G | ENSP00000206765.6:p.Ser160Cys | |
| ENST00000544573.5:c.-29+403C>G | ENSP00000439446.1:n.-29+403C>G | |
| NM_000359.2:c.479C>G | NP_000350.1:p.Ser160Cys | |
| NM_000359.3:c.479C>G MANE Select | NP_000350.1:p.Ser160Cys |