Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12500272C= , CM000686.2:g.12500272C= | GRCh38 |
| NC_000024.9:g.14612066C= , CM000686.1:g.14612066C= | GRCh37 |
| NC_000024.8:g.13122074C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000381172.3:n.61+7037G= |