Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28659097T>A , CM000675.2:g.28659097T>A | GRCh38 |
| NC_000013.10:g.29233234T>A , CM000675.1:g.29233234T>A | GRCh37 |
| NC_000013.9:g.28131234T>A | NCBI36 |
| NG_027550.1:g.5094T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697716.1:c.-173T>A | ENSP00000513414.1:n.-173T>A | |
| NM_015932.5:c.-88T>A | NP_057016.1:n.-88T>A |