Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.39329106G>C , CM000675.2:g.39329106G>C | GRCh38 |
| NC_000013.10:g.39903243G>C , CM000675.1:g.39903243G>C | GRCh37 |
| NC_000013.9:g.38801243G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648377.1:c.*82+14748C>G | ENSP00000496801.1:n.*82+14748C>G | |
| XR_001749845.1:n.1449+7165C>G |