Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89777808A>G , CM000677.2:g.89777808A>G | GRCh38 |
| NC_000015.9:g.90321039A>G , CM000677.1:g.90321039A>G | GRCh37 |
| NC_000015.8:g.88122043A>G | NCBI36 |
| NG_008608.1:g.6451A>G | |
| NG_008608.2:g.22218A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001039958.2:c.925-257A>G MANE Select | NP_001035047.1:n.925-257A>G |
| ENST00000341735.5:c.925-257A>G MANE Select | ENSP00000342392.3:n.925-257A>G |
| NM_001039958.1:c.925-257A>G | NP_001035047.1:n.925-257A>G |
| ENST00000341735.3:c.925-257A>G | ENSP00000342392.3:n.925-257A>G |
| ENST00000558723.1:n.39-257A>G | |
| ENST00000560219.2:c.31-257A>G | ENSP00000452998.1:n.31-257A>G |