Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89776405G>A , CM000677.2:g.89776405G>A | GRCh38 |
| NC_000015.9:g.90319636G>A , CM000677.1:g.90319636G>A | GRCh37 |
| NC_000015.8:g.88120640G>A | NCBI36 |
| NG_008608.1:g.5048G>A | |
| NG_008608.2:g.20815G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001039958.2:c.48G>A MANE Select | NP_001035047.1:p.Trp16Ter |
| ENST00000341735.5:c.48G>A MANE Select | ENSP00000342392.3:p.Trp16Ter |
| NM_001039958.1:c.48G>A | NP_001035047.1:p.Trp16Ter |
| ENST00000341735.3:c.48G>A | ENSP00000342392.3:p.Trp16Ter |
| ENST00000558723.1:n.39-1660G>A | |
| ENST00000560219.2:c.31-1660G>A | ENSP00000452998.1:n.31-1660G>A |