Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.69879273T>A , CM000676.2:g.69879273T>A | GRCh38 |
| NC_000014.8:g.70345990T>A , CM000676.1:g.70345990T>A | GRCh37 |
| NC_000014.7:g.69415743T>A | NCBI36 |
| NG_028217.1:g.4877T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000555917.1:n.404+15059T>A |