Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.46897343C>A , CM000675.2:g.46897343C>A | GRCh38 |
| NC_000013.10:g.47471478C>A , CM000675.1:g.47471478C>A | GRCh37 |
| NC_000013.9:g.46369479C>A | NCBI36 |
| NG_013011.1:g.4692G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001378924.1:c.-329+609G>T | NP_001365853.1:n.-329+609G>T |