Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.1995995C= , CM000682.2:g.1995995C= | GRCh38 |
| NC_000020.10:g.1976641C= , CM000682.1:g.1976641C= | GRCh37 |
| NC_000020.9:g.1924641C= | NCBI36 |
| NG_028027.1:g.3251G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_244229.1:n.1217-10937C= | ||
| NR_134520.1:n.1253-10937C= |