Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48303529G= , CM000675.2:g.48303529G= | GRCh38 |
| NC_000013.10:g.48877665G= , CM000675.1:g.48877665G= | GRCh37 |
| NC_000013.9:g.47775666G= | NCBI36 |
| NG_009009.1:g.4783G= , LRG_517:g.4783G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_046414.1:n.133C= | ||
| NR_046414.2:n.174C= |