Linked Data
ClinVar Variation Id:
38333
ClinVar RCV Id:
RCV000031891
dbSNP Id:
rs281864920
PubMed:
PMID:20301437
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151851410A>T , CM000667.2:g.151851410A>T | GRCh38 |
| NC_000005.9:g.151230971A>T , CM000667.1:g.151230971A>T | GRCh37 |
| NC_000005.8:g.151211164A>T | NCBI36 |
| NG_011764.1:g.78427T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.892T>A MANE Select | ENSP00000274576.5:p.Ser298Thr | |
| ENST00000274576.8:c.892T>A | ENSP00000274576.4:p.Ser298Thr | |
| ENST00000455880.2:c.892T>A | ENSP00000411593.2:p.Ser298Thr | |
| ENST00000462581.6:c.*650T>A | ENSP00000430595.1:n.*650T>A | |
| ENST00000471351.2:n.1175T>A | ||
| NM_000171.3:c.892T>A | NP_000162.2:p.Ser298Thr | |
| NM_001146040.1:c.892T>A | NP_001139512.1:p.Ser298Thr | |
| NM_001292000.1:c.643T>A | NP_001278929.1:p.Ser215Thr | |
| XM_005268412.2:c.892T>A | XP_005268469.1:p.Ser298Thr | |
| NM_000171.4:c.892T>A MANE Select | NP_000162.2:p.Ser298Thr | |
| NM_001146040.2:c.892T>A | NP_001139512.1:p.Ser298Thr | |
| NM_001292000.2:c.643T>A | NP_001278929.1:p.Ser215Thr |