Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89776664G>A , CM000677.2:g.89776664G>A | GRCh38 |
| NC_000015.9:g.90319895G>A , CM000677.1:g.90319895G>A | GRCh37 |
| NC_000015.8:g.88120899G>A | NCBI36 |
| NG_008608.1:g.5307G>A | |
| NG_008608.2:g.21074G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001039958.2:c.307G>A MANE Select | NP_001035047.1:p.Glu103Lys |
| ENST00000341735.5:c.307G>A MANE Select | ENSP00000342392.3:p.Glu103Lys |
| NM_001039958.1:c.307G>A | NP_001035047.1:p.Glu103Lys |
| ENST00000341735.3:c.307G>A | ENSP00000342392.3:p.Glu103Lys |
| ENST00000558723.1:n.39-1401G>A | |
| ENST00000560219.2:c.31-1401G>A | ENSP00000452998.1:n.31-1401G>A |