Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84145190C>G , CM000678.2:g.84145190C>G | GRCh38 |
| NC_000016.9:g.84178795C>G , CM000678.1:g.84178795C>G | GRCh37 |
| NC_000016.8:g.82736296C>G | NCBI36 |
| NG_021174.1:g.4931C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567294.5:n.3G>C | ||
| NM_001146051.1:c.-179G>C | NP_001139523.1:n.-179G>C | |
| NM_031463.4:c.-179G>C | NP_113651.4:n.-179G>C |