Linked Data
ClinVar Variation Id:
221230
ClinVar RCV Id:
RCV000206899
dbSNP Id:
rs864622782
PubMed:
PMID:26063658
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506765C>A , CM000672.2:g.122506765C>A | GRCh38 |
| NC_000010.10:g.124266281C>A , CM000672.1:g.124266281C>A | GRCh37 |
| NC_000010.9:g.124256271C>A | NCBI36 |
| NG_011554.1:g.50241C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368984.8:c.852C>A MANE Select | ENSP00000357980.3:p.Ser284Arg | |
| ENST00000648167.1:c.534C>A | ENSP00000498033.1:p.Ser178Arg | |
| ENST00000368984.7:c.852C>A | ENSP00000357980.3:p.Ser284Arg | |
| ENST00000420892.1:c.75C>A | ENSP00000412676.1:p.Ser25Arg | |
| NM_002775.4:c.852C>A | NP_002766.1:p.Ser284Arg | |
| NM_002775.5:c.852C>A MANE Select | NP_002766.1:p.Ser284Arg |