Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127473719A>C , CM000670.2:g.127473719A>C | GRCh38 |
| NC_000008.10:g.128485964A>C , CM000670.1:g.128485964A>C | GRCh37 |
| NC_000008.9:g.128555146A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_024393.1:n.1041+5364T>G | |
| NR_117100.1:n.1041+5364T>G |