Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28659090C>G , CM000675.2:g.28659090C>G | GRCh38 |
| NC_000013.10:g.29233227C>G , CM000675.1:g.29233227C>G | GRCh37 |
| NC_000013.9:g.28131227C>G | NCBI36 |
| NG_027550.1:g.5087C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697716.1:c.-180C>G | ENSP00000513414.1:n.-180C>G | |
| NM_015932.5:c.-95C>G | NP_057016.1:n.-95C>G |