Linked Data
dbSNP Id:
rs759331866
ExAC:
19:17394149 C / G
gnomAD v2:
19-17394149-C-G
gnomAD v4:
19-17283340-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17283340C>G , CM000681.2:g.17283340C>G | GRCh38 |
| NC_000019.9:g.17394149C>G , CM000681.1:g.17394149C>G | GRCh37 |
| NC_000019.8:g.17255149C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404085.7:c.576C>G MANE Select | ENSP00000384008.3:p.Ser192Arg | |
| ENST00000404261.9:c.576C>G | ENSP00000384753.6:p.Ser192Arg | |
| ENST00000594072.6:c.576C>G | ENSP00000468845.4:p.Ser192Arg | |
| ENST00000651416.1:n.793C>G | ||
| ENST00000652132.1:c.543C>G | ENSP00000498416.1:p.Ser181Arg | |
| ENST00000394458.7:c.738C>G | ENSP00000377971.4:p.Ser246Arg | |
| ENST00000404085.5:c.*475C>G | ENSP00000384008.2:n.*475C>G | |
| ENST00000404261.8:c.738C>G | ENSP00000384753.5:p.Ser246Arg | |
| ENST00000594072.5:c.738C>G | ENSP00000468845.3:p.Ser246Arg | |
| ENST00000596626.1:n.689C>G | ||
| ENST00000598347.2:c.578C>G | ||
| NM_001278443.1:c.705C>G | NP_001265372.1:p.Ser235Arg | |
| NM_001278444.1:c.738C>G | NP_001265373.1:p.Ser246Arg | |
| NM_001278445.1:c.642C>G | NP_001265374.1:p.Ser214Arg | |
| NM_152363.5:c.738C>G | NP_689576.5:p.Ser246Arg | |
| NR_103530.1:n.852C>G | ||
| NM_001278443.2:c.543C>G | NP_001265372.2:p.Ser181Arg | |
| NM_001278444.2:c.576C>G | NP_001265373.2:p.Ser192Arg | |
| NM_001278445.2:c.534C>G | NP_001265374.2:p.Ser178Arg | |
| NM_152363.6:c.576C>G MANE Select | NP_689576.6:p.Ser192Arg | |
| NR_103530.2:n.596C>G |