Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89776473C>A , CM000677.2:g.89776473C>A | GRCh38 |
| NC_000015.9:g.90319704C>A , CM000677.1:g.90319704C>A | GRCh37 |
| NC_000015.8:g.88120708C>A | NCBI36 |
| NG_008608.1:g.5116C>A | |
| NG_008608.2:g.20883C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001039958.2:c.116C>A MANE Select | NP_001035047.1:p.Ser39Ter |
| ENST00000341735.5:c.116C>A MANE Select | ENSP00000342392.3:p.Ser39Ter |
| NM_001039958.1:c.116C>A | NP_001035047.1:p.Ser39Ter |
| ENST00000341735.3:c.116C>A | ENSP00000342392.3:p.Ser39Ter |
| ENST00000558723.1:n.39-1592C>A | |
| ENST00000560219.2:c.31-1592C>A | ENSP00000452998.1:n.31-1592C>A |