Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.46897394A>G , CM000675.2:g.46897394A>G | GRCh38 |
| NC_000013.10:g.47471529A>G , CM000675.1:g.47471529A>G | GRCh37 |
| NC_000013.9:g.46369530A>G | NCBI36 |
| NG_013011.1:g.4641T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001378924.1:c.-329+558T>C | NP_001365853.1:n.-329+558T>C |