Linked Data
ClinVar Variation Id:
438133
ClinVar RCV Id:
RCV000504848
dbSNP Id:
rs1553128102
gnomAD v3:
1-9982346-C-A
gnomAD v4:
1-9982346-C-A
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.9982346C>A , CM000663.2:g.9982346C>A | GRCh38 |
| NC_000001.10:g.10042404C>A , CM000663.1:g.10042404C>A | GRCh37 |
| NC_000001.9:g.9964991C>A | NCBI36 |
| NG_032954.1:g.43919C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377205.6:c.485C>A MANE Select | ENSP00000366410.1:p.Ser162Tyr | |
| ENST00000377205.5:c.485C>A | ENSP00000366410.1:p.Ser162Tyr | |
| ENST00000462686.1:c.485C>A | ENSP00000435134.1:p.Ser162Tyr | |
| ENST00000496751.1:c.119+1176C>A | ||
| NM_001297778.1:c.485C>A | NP_001284707.1:p.Ser162Tyr | |
| NM_022787.3:c.485C>A | NP_073624.2:p.Ser162Tyr | |
| XM_011541971.1:c.439+1176C>A | XP_011540273.1:n.439+1176C>A | |
| XM_011541971.2:c.439+1176C>A | XP_011540273.1:n.439+1176C>A | |
| XM_017002107.2:c.485C>A | XP_016857596.1:p.Ser162Tyr | |
| XM_017002108.2:c.439+1176C>A | XP_016857597.1:n.439+1176C>A | |
| NM_022787.4:c.485C>A MANE Select | NP_073624.2:p.Ser162Tyr |