Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52520414C>T , CM000674.2:g.52520414C>T | GRCh38 |
| NC_000012.11:g.52914198C>T , CM000674.1:g.52914198C>T | GRCh37 |
| NC_000012.10:g.51200465C>T | NCBI36 |
| NG_008297.1:g.5046G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.8:c.-118G>A | ENSP00000252242.4:n.-118G>A | |
| ENST00000546577.1:c.-30G>A | ENSP00000449651.1:n.-30G>A | |
| NM_000424.3:c.-118G>A | NP_000415.2:n.-118G>A |