Linked Data
ClinVar Variation Id:
370891
ClinVar RCV Id:
RCV000409256
dbSNP Id:
rs1057516848
gnomAD v4:
12-120737891-C-A
PubMed:
PMID:22241096
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120737891C>A , CM000674.2:g.120737891C>A | GRCh38 |
| NC_000012.11:g.121175694C>A , CM000674.1:g.121175694C>A | GRCh37 |
| NC_000012.10:g.119660077C>A | NCBI36 |
| NG_007991.1:g.17124C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242592.9:c.527C>A MANE Select | ENSP00000242592.4:p.Ser176Ter | |
| ENST00000242592.8:c.527C>A | ENSP00000242592.4:p.Ser176Ter | |
| ENST00000411593.2:c.473-158C>A | ENSP00000401045.2:n.473-158C>A | |
| NM_000017.3:c.527C>A | NP_000008.1:p.Ser176Ter | |
| NM_001302554.1:c.473-158C>A | NP_001289483.1:n.473-158C>A | |
| NM_000017.4:c.527C>A MANE Select | NP_000008.1:p.Ser176Ter | |
| NM_001302554.2:c.473-158C>A | NP_001289483.1:n.473-158C>A |