Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28659103G>C , CM000675.2:g.28659103G>C | GRCh38 |
| NC_000013.10:g.29233240G>C , CM000675.1:g.29233240G>C | GRCh37 |
| NC_000013.9:g.28131240G>C | NCBI36 |
| NG_027550.1:g.5100G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697716.1:c.-167G>C | ENSP00000513414.1:n.-167G>C | |
| NM_015932.5:c.-82G>C | NP_057016.1:n.-82G>C |