Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28659101G>T , CM000675.2:g.28659101G>T | GRCh38 |
| NC_000013.10:g.29233238G>T , CM000675.1:g.29233238G>T | GRCh37 |
| NC_000013.9:g.28131238G>T | NCBI36 |
| NG_027550.1:g.5098G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697716.1:c.-169G>T | ENSP00000513414.1:n.-169G>T | |
| NM_015932.5:c.-84G>T | NP_057016.1:n.-84G>T |