Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89776368C>A , CM000677.2:g.89776368C>A | GRCh38 |
| NC_000015.9:g.90319599C>A , CM000677.1:g.90319599C>A | GRCh37 |
| NC_000015.8:g.88120603C>A | NCBI36 |
| NG_008608.1:g.5011C>A | |
| NG_008608.2:g.20778C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001039958.2:c.11C>A MANE Select | NP_001035047.1:p.Ser4Ter |
| ENST00000341735.5:c.11C>A MANE Select | ENSP00000342392.3:p.Ser4Ter |
| NM_001039958.1:c.11C>A | NP_001035047.1:p.Ser4Ter |
| ENST00000341735.3:c.11C>A | ENSP00000342392.3:p.Ser4Ter |
| ENST00000558723.1:n.39-1697C>A | |
| ENST00000560219.2:c.31-1697C>A | ENSP00000452998.1:n.31-1697C>A |