Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.26774814C>A , CM000677.2:g.26774814C>A | GRCh38 |
| NC_000015.9:g.27019961C>A , CM000677.1:g.27019961C>A | GRCh37 |
| NC_000015.8:g.24571054C>A | NCBI36 |
| NG_012836.1:g.3967G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000541819.6:c.249-2042G>T | ENSP00000442408.2:n.249-2042G>T |
| ENST00000557641.5:n.453-2042G>T |