Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7725939T>C , CM000686.2:g.7725939T>C | GRCh38 |
| NC_000024.9:g.7593980T>C , CM000686.1:g.7593980T>C | GRCh37 |
| NC_000024.8:g.7653980T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651261.1:n.299-12842A>G | ||
| ENST00000455527.5:n.680+3518A>G |