Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7738601C>A , CM000686.2:g.7738601C>A | GRCh38 |
| NC_000024.9:g.7606642C>A , CM000686.1:g.7606642C>A | GRCh37 |
| NC_000024.8:g.7666642C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651261.1:n.299-25504G>T | ||
| ENST00000455527.5:n.297-8761G>T |