Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89776663C>A , CM000677.2:g.89776663C>A | GRCh38 |
| NC_000015.9:g.90319894C>A , CM000677.1:g.90319894C>A | GRCh37 |
| NC_000015.8:g.88120898C>A | NCBI36 |
| NG_008608.1:g.5306C>A | |
| NG_008608.2:g.21073C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001039958.2:c.306C>A MANE Select | NP_001035047.1:p.His102Gln |
| ENST00000341735.5:c.306C>A MANE Select | ENSP00000342392.3:p.His102Gln |
| NM_001039958.1:c.306C>A | NP_001035047.1:p.His102Gln |
| ENST00000341735.3:c.306C>A | ENSP00000342392.3:p.His102Gln |
| ENST00000558723.1:n.39-1402C>A | |
| ENST00000560219.2:c.31-1402C>A | ENSP00000452998.1:n.31-1402C>A |