Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28659093C= , CM000675.2:g.28659093C= | GRCh38 |
| NC_000013.10:g.29233230C= , CM000675.1:g.29233230C= | GRCh37 |
| NC_000013.9:g.28131230C= | NCBI36 |
| NG_027550.1:g.5090C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697716.1:c.-177C= | ENSP00000513414.1:n.-177C= | |
| NM_015932.5:c.-92C= | NP_057016.1:n.-92C= |