Linked Data
ClinVar Variation Id:
135258
ClinVar RCV Id:
RCV000122072
dbSNP Id:
rs587778687
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.129189250C>G , CM000669.2:g.129189250C>G | GRCh38 |
| NC_000007.13:g.128829091C>G , CM000669.1:g.128829091C>G | GRCh37 |
| NC_000007.12:g.128616327C>G | NCBI36 |
| NG_023340.1:g.5379C>G | |
| NG_023340.2:g.5379C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249373.8:c.99C>G MANE Select | ENSP00000249373.3:p.Ser33Arg | |
| ENST00000655644.1:c.99C>G | ENSP00000499377.1:p.Ser33Arg | |
| ENST00000249373.7:c.99C>G | ENSP00000249373.3:p.Ser33Arg | |
| NM_005631.4:c.99C>G | NP_005622.1:p.Ser33Arg | |
| NM_005631.5:c.99C>G MANE Select | NP_005622.1:p.Ser33Arg |