Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12946757T= , CM000686.2:g.12946757T= | GRCh38 |
| NC_000024.9:g.15058665T= , CM000686.1:g.15058665T= | GRCh37 |
| NC_000024.8:g.13568059T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412870.1:n.188-450A= |