Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28659105C= , CM000675.2:g.28659105C= | GRCh38 |
| NC_000013.10:g.29233242C= , CM000675.1:g.29233242C= | GRCh37 |
| NC_000013.9:g.28131242C= | NCBI36 |
| NG_027550.1:g.5102C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697716.1:c.-165C= | ENSP00000513414.1:n.-165C= | |
| ENST00000380842.4:c.-80C= | ENSP00000370222.4:n.-80C= | |
| ENST00000460403.1:n.2C= | ||
| NM_015932.5:c.-80C= | NP_057016.1:n.-80C= |