Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.3019783A= , CM000686.2:g.3019783A= | GRCh38 |
| NC_000024.9:g.2887824A= , CM000686.1:g.2887824A= | GRCh37 |
| NC_000024.8:g.2947824A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_046502.1:n.222+16566A= |
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.3019783A= , CM000686.2:g.3019783A= | GRCh38 |
| NC_000024.9:g.2887824A= , CM000686.1:g.2887824A= | GRCh37 |
| NC_000024.8:g.2947824A= | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| NR_046502.1:n.222+16566A= |