Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7726048G= , CM000686.2:g.7726048G= | GRCh38 |
| NC_000024.9:g.7594089G= , CM000686.1:g.7594089G= | GRCh37 |
| NC_000024.8:g.7654089G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651261.1:n.299-12951C= | ||
| ENST00000455527.5:n.680+3409C= |