Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.46897246A>C , CM000675.2:g.46897246A>C | GRCh38 |
| NC_000013.10:g.47471381A>C , CM000675.1:g.47471381A>C | GRCh37 |
| NC_000013.9:g.46369382A>C | NCBI36 |
| NG_013011.1:g.4789T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_001378924.1:c.-329+706T>G | NP_001365853.1:n.-329+706T>G |