Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.10013848G>T , CM000686.2:g.10013848G>T | GRCh38 |
| NC_000024.9:g.9851457G>T , CM000686.1:g.9851457G>T | GRCh37 |
| NC_000024.8:g.10461457G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651645.1:n.834+9347C>A |