Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.13871134T= , CM000686.2:g.13871134T= | GRCh38 |
| NC_000024.9:g.15983014T= , CM000686.1:g.15983014T= | GRCh37 |
| NC_000024.8:g.14492408T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000460561.1:n.607-499T= | |
| ENST00000472227.5:n.806-548T= | |
| ENST00000652544.1:n.1031-499T= |