Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.1995962C= , CM000682.2:g.1995962C= | GRCh38 |
| NC_000020.10:g.1976608C= , CM000682.1:g.1976608C= | GRCh37 |
| NC_000020.9:g.1924608C= | NCBI36 |
| NG_028027.1:g.3284G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_244229.1:n.1217-10970C= | ||
| NR_134520.1:n.1253-10970C= |