Linked Data
ClinVar Variation Id:
25303
ClinVar RCV Id:
RCV000022248
dbSNP Id:
rs111033798
PubMed:
PMID:7623454
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34649475C>T , CM000671.2:g.34649475C>T | GRCh38 |
| NC_000009.11:g.34649472C>T , CM000671.1:g.34649472C>T | GRCh37 |
| NC_000009.10:g.34639472C>T | NCBI36 |
| NG_009029.1:g.7838C>T | |
| NG_028966.1:g.2291C>T | |
| NG_009029.2:g.7887C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*558C>T | ENSP00000509954.1:n.*558C>T | |
| ENST00000378842.8:c.970C>T MANE Select | ENSP00000368119.4:p.Pro324Ser | |
| ENST00000378842.7:c.970C>T | ENSP00000368119.3:p.Pro324Ser | |
| ENST00000450095.6:c.643C>T | ENSP00000401956.2:p.Pro215Ser | |
| ENST00000488412.2:n.554C>T | ||
| ENST00000489643.6:n.1378C>T | ||
| ENST00000554550.5:c.*590C>T | ENSP00000451435.1:n.*590C>T | |
| ENST00000554638.5:n.1442C>T | ||
| ENST00000555020.5:n.1759C>T | ||
| ENST00000555754.1:n.418C>T | ||
| ENST00000556278.1:c.432+1019C>T | ENSP00000451792.1:n.432+1019C>T | |
| ENST00000557706.5:n.1545C>T | ||
| NM_000155.3:c.970C>T | NP_000146.2:p.Pro324Ser | |
| NM_001258332.1:c.643C>T | NP_001245261.1:p.Pro215Ser | |
| NM_000155.4:c.970C>T MANE Select | NP_000146.2:p.Pro324Ser | |
| NM_001258332.2:c.643C>T | NP_001245261.1:p.Pro215Ser |