Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7522611A= , CM000681.2:g.7522611A= | GRCh38 |
| NC_000019.9:g.7587497A= , CM000681.1:g.7587497A= | GRCh37 |
| NC_000019.8:g.7493497A= | NCBI36 |
| NG_015806.1:g.5002A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_020533.2:c.-140A= | NP_065394.1:n.-140A= | |
| XR_936293.1:n.926+231T= | ||
| XR_936294.1:n.926+231T= | ||
| XR_936295.1:n.570+231T= | ||
| XR_936293.2:n.952+231T= | ||
| XR_936294.2:n.952+231T= |