Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48303685C= , CM000675.2:g.48303685C= | GRCh38 |
| NC_000013.10:g.48877821C= , CM000675.1:g.48877821C= | GRCh37 |
| NC_000013.9:g.47775822C= | NCBI36 |
| NG_009009.1:g.4939C= , LRG_517:g.4939C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_046414.2:n.18G= |