Linked Data
ClinVar Variation Id:
208840
ClinVar RCV Id:
RCV000190860
dbSNP Id:
rs797045133
PubMed:
PMID:22541558
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149926630G>T , CM000663.2:g.149926630G>T | GRCh38 |
| NC_000001.10:g.149898522G>T , CM000663.1:g.149898522G>T | GRCh37 |
| NC_000001.9:g.148165146G>T | NCBI36 |
| NG_032777.1:g.6623C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271628.9:c.452C>A MANE Select | ENSP00000271628.8:p.Ser151Ter | |
| ENST00000271628.8:c.452C>A | ENSP00000271628.8:p.Ser151Ter | |
| ENST00000457312.1:c.323C>A | ENSP00000391114.1:p.Ser108Ter | |
| NM_005850.4:c.452C>A | NP_005841.1:p.Ser151Ter | |
| NM_005850.5:c.452C>A MANE Select | NP_005841.1:p.Ser151Ter |