Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52520412C= , CM000674.2:g.52520412C= | GRCh38 |
| NC_000012.11:g.52914196C= , CM000674.1:g.52914196C= | GRCh37 |
| NC_000012.10:g.51200463C= | NCBI36 |
| NG_008297.1:g.5048G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.8:c.-116G= | ENSP00000252242.4:n.-116G= | |
| ENST00000546577.1:c.-28G= | ENSP00000449651.1:n.-28G= | |
| NM_000424.3:c.-116G= | NP_000415.2:n.-116G= |