Linked Data
ClinVar Variation Id:
8452
ClinVar RCV Id:
RCV003509480
dbSNP Id:
rs104893957
PubMed:
PMID:9620769
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610837C>T , CM000668.2:g.1610837C>T | GRCh38 |
| NC_000006.11:g.1611072C>T , CM000668.1:g.1611072C>T | GRCh37 |
| NC_000006.10:g.1556071C>T | NCBI36 |
| NG_009368.1:g.5392C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645831.2:c.392C>T MANE Select | ENSP00000493906.1:p.Ser131Leu | |
| ENST00000380874.3:c.392C>T | ENSP00000370256.2:p.Ser131Leu | |
| NM_001453.2:c.392C>T | NP_001444.2:p.Ser131Leu | |
| NM_001453.3:c.392C>T MANE Select | NP_001444.2:p.Ser131Leu |