Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28659040C>T , CM000675.2:g.28659040C>T | GRCh38 |
| NC_000013.10:g.29233177C>T , CM000675.1:g.29233177C>T | GRCh37 |
| NC_000013.9:g.28131177C>T | NCBI36 |
| NG_027550.1:g.5037C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_015932.5:c.-145C>T | NP_057016.1:n.-145C>T |