Linked Data
ClinVar Variation Id:
11305
ClinVar RCV Id:
RCV000012057
dbSNP Id:
rs128624223
PubMed:
PMID:7849723
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153740147C>T , CM000685.2:g.153740147C>T | GRCh38 |
| NC_000023.10:g.153005601C>T , CM000685.1:g.153005601C>T | GRCh37 |
| NC_000023.9:g.152658795C>T | NCBI36 |
| NG_009022.2:g.20280C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1544C>T MANE Select | ENSP00000218104.3:p.Ser515Phe | |
| ENST00000218104.5:c.1544C>T | ENSP00000218104.3:p.Ser515Phe | |
| ENST00000443684.2:n.547C>T | ||
| NM_000033.3:c.1544C>T | NP_000024.2:p.Ser515Phe | |
| XR_938507.1:n.2016C>T | ||
| XR_938507.2:n.2016C>T | ||
| NM_000033.4:c.1544C>T MANE Select | NP_000024.2:p.Ser515Phe |