Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.26866654C= , CM000680.2:g.26866654C= | GRCh38 |
| NC_000018.9:g.24446618C= , CM000680.1:g.24446618C= | GRCh37 |
| NC_000018.8:g.22700616C= | NCBI36 |
| NG_029560.1:g.4099G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_026908.1:n.53+1294C= |