Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48303561G= , CM000675.2:g.48303561G= | GRCh38 |
| NC_000013.10:g.48877697G= , CM000675.1:g.48877697G= | GRCh37 |
| NC_000013.9:g.47775698G= | NCBI36 |
| NG_009009.1:g.4815G= , LRG_517:g.4815G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_046414.1:n.101C= | ||
| NR_046414.2:n.142C= |