Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.35928474C>A , CM000676.2:g.35928474C>A | GRCh38 |
| NC_000014.8:g.36397680C>A , CM000676.1:g.36397680C>A | GRCh37 |
| NC_000014.7:g.35467431C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551774.1:c.599-3249C>A |