Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.78451811G>T , CM000675.2:g.78451811G>T | GRCh38 |
| NC_000013.10:g.79025946G>T , CM000675.1:g.79025946G>T | GRCh37 |
| NC_000013.9:g.77923947G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_047001.1:n.385-153490G>T |