Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.9332936A= , CM000686.2:g.9332936A= | GRCh38 |
| NC_000024.9:g.9170545A= , CM000686.1:g.9170545A= | GRCh37 |
| NC_000024.8:g.9230545A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_001546.1:n.82+1815T= |
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.9332936A= , CM000686.2:g.9332936A= | GRCh38 |
| NC_000024.9:g.9170545A= , CM000686.1:g.9170545A= | GRCh37 |
| NC_000024.8:g.9230545A= | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| NR_001546.1:n.82+1815T= |