Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48303603T= , CM000675.2:g.48303603T= | GRCh38 |
| NC_000013.10:g.48877739T= , CM000675.1:g.48877739T= | GRCh37 |
| NC_000013.9:g.47775740T= | NCBI36 |
| NG_009009.1:g.4857T= , LRG_517:g.4857T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_046414.1:n.59A= | ||
| NR_046414.2:n.100A= |