Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.13092973G>A , CM000686.2:g.13092973G>A | GRCh38 |
| NC_000024.9:g.15204887G>A , CM000686.1:g.15204887G>A | GRCh37 |
| NC_000024.8:g.13714281G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446621.1:n.556-1602G>A |