Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.14081208A= , CM000686.2:g.14081208A= | GRCh38 |
| NC_000024.9:g.16193088A= , CM000686.1:g.16193088A= | GRCh37 |
| NC_000024.8:g.14702482A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000458328.1:n.95+39A= |