Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.105464999T= , CM000675.2:g.105464999T= | GRCh38 |
| NC_000013.10:g.106117348T= , CM000675.1:g.106117348T= | GRCh37 |
| NC_000013.9:g.104915349T= | NCBI36 |
| NG_012694.1:g.4133T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_040247.1:n.739+1188A= |