Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.8280828G= , CM000686.2:g.8280828G= | GRCh38 |
| NC_000024.9:g.8148869G= , CM000686.1:g.8148869G= | GRCh37 |
| NC_000024.8:g.8208869G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431340.1:n.138+493G= |