Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.3000455A= , CM000686.2:g.3000455A= | GRCh38 |
| NC_000024.9:g.2868496A= , CM000686.1:g.2868496A= | GRCh37 |
| NC_000024.8:g.2928496A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_144458.1:n.314+1858T= |
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.3000455A= , CM000686.2:g.3000455A= | GRCh38 |
| NC_000024.9:g.2868496A= , CM000686.1:g.2868496A= | GRCh37 |
| NC_000024.8:g.2928496A= | NCBI36 |
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_144458.1:n.314+1858T= |