Linked Data
ClinVar Variation Id:
15681
ClinVar RCV Id:
RCV000016970
dbSNP Id:
rs41430445
PubMed:
PMID:12779273
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173130T>C , CM000678.2:g.173130T>C | GRCh38 |
| NC_000016.9:g.223129T>C , CM000678.1:g.223129T>C | GRCh37 |
| NC_000016.8:g.163129T>C | NCBI36 |
| NG_000006.1:g.33993T>C | |
| NG_059186.1:g.1480T>C | |
| NG_059271.1:g.5284T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251595.11:c.101T>C MANE Select | ENSP00000251595.6:p.Phe34Ser | |
| ENST00000251595.10:c.101T>C | ENSP00000251595.6:p.Phe34Ser | |
| ENST00000397806.1:c.5T>C | ENSP00000380908.1:p.Phe2Ser | |
| ENST00000482565.1:n.237T>C | ||
| ENST00000484216.1:n.70T>C | ||
| NM_000517.4:c.101T>C | NP_000508.1:p.Phe34Ser | |
| NM_000517.6:c.101T>C MANE Select | NP_000508.1:p.Phe34Ser |