Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.15403685G>T , CM000686.2:g.15403685G>T | GRCh38 |
| NC_000024.9:g.17515565G>T , CM000686.1:g.17515565G>T | GRCh37 |
| NC_000024.8:g.16024959G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421058.1:n.41-21843C>A |