Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.26774265G>A , CM000677.2:g.26774265G>A | GRCh38 |
| NC_000015.9:g.27019412G>A , CM000677.1:g.27019412G>A | GRCh37 |
| NC_000015.8:g.24570505G>A | NCBI36 |
| NG_012836.1:g.4516C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000541819.6:c.249-1493C>T | ENSP00000442408.2:n.249-1493C>T |
| ENST00000557641.5:n.453-1493C>T |