Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.46897305G>T , CM000675.2:g.46897305G>T | GRCh38 |
| NC_000013.10:g.47471440G>T , CM000675.1:g.47471440G>T | GRCh37 |
| NC_000013.9:g.46369441G>T | NCBI36 |
| NG_013011.1:g.4730C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_001378924.1:c.-329+647C>A | NP_001365853.1:n.-329+647C>A |