Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40439840T>C , CM000675.2:g.40439840T>C | GRCh38 |
| NC_000013.10:g.41013977T>C , CM000675.1:g.41013977T>C | GRCh37 |
| NC_000013.9:g.39911977T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_024506.1:n.663+20442A>G | |
| NR_024507.2:n.803+11224A>G |