Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.26774258A>G , CM000677.2:g.26774258A>G | GRCh38 |
| NC_000015.9:g.27019405A>G , CM000677.1:g.27019405A>G | GRCh37 |
| NC_000015.8:g.24570498A>G | NCBI36 |
| NG_012836.1:g.4523T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000541819.6:c.249-1486T>C | ENSP00000442408.2:n.249-1486T>C |
| ENST00000557641.5:n.453-1486T>C |