Linked Data
ClinVar Variation Id:
43522
ClinVar RCV Id:
RCV003324721
dbSNP Id:
rs111033200
PubMed:
PMID:25015771
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107663301C>G , CM000669.2:g.107663301C>G | GRCh38 |
| NC_000007.13:g.107303746C>G , CM000669.1:g.107303746C>G | GRCh37 |
| NC_000007.12:g.107090982C>G | NCBI36 |
| NG_008489.1:g.7667C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644269.2:c.170C>G MANE Select | ENSP00000494017.1:p.Ser57Ter | |
| ENST00000265715.7:c.170C>G | ENSP00000265715.3:p.Ser57Ter | |
| ENST00000440056.1:c.170C>G | ENSP00000394760.1:p.Ser57Ter | |
| NM_000441.1:c.170C>G | NP_000432.1:p.Ser57Ter | |
| XM_005250425.1:c.170C>G | XP_005250482.1:p.Ser57Ter | |
| XM_006716025.2:c.170C>G | XP_006716088.1:p.Ser57Ter | |
| XM_005250425.2:c.170C>G | XP_005250482.1:p.Ser57Ter | |
| XM_006716025.3:c.170C>G | XP_006716088.1:p.Ser57Ter | |
| XM_017012318.1:c.170C>G | XP_016867807.1:p.Ser57Ter | |
| NM_000441.2:c.170C>G MANE Select | NP_000432.1:p.Ser57Ter |