Linked Data
ClinVar Variation Id:
204119
ClinVar RCV Id:
RCV000186325
dbSNP Id:
rs180177248
PubMed:
PMID:19479957
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873996C>A , CM000664.2:g.240873996C>A | GRCh38 |
| NC_000002.11:g.241813413C>A , CM000664.1:g.241813413C>A | GRCh37 |
| NC_000002.10:g.241462086C>A | NCBI36 |
| NG_008005.1:g.10252C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.614C>A MANE Select | ENSP00000302620.3:p.Ser205Ter | |
| ENST00000307503.3:c.614C>A | ENSP00000302620.3:p.Ser205Ter | |
| ENST00000476698.1:n.332+947C>A | ||
| NM_000030.2:c.614C>A | NP_000021.1:p.Ser205Ter | |
| NM_000030.3:c.614C>A MANE Select | NP_000021.1:p.Ser205Ter |