Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7725767C>G , CM000686.2:g.7725767C>G | GRCh38 |
| NC_000024.9:g.7593808C>G , CM000686.1:g.7593808C>G | GRCh37 |
| NC_000024.8:g.7653808C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651261.1:n.299-12670G>C | ||
| ENST00000455527.5:n.680+3690G>C |