Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52520416C= , CM000674.2:g.52520416C= | GRCh38 |
| NC_000012.11:g.52914200C= , CM000674.1:g.52914200C= | GRCh37 |
| NC_000012.10:g.51200467C= | NCBI36 |
| NG_008297.1:g.5044G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.8:c.-120G= | ENSP00000252242.4:n.-120G= | |
| ENST00000546577.1:c.-32G= | ENSP00000449651.1:n.-32G= | |
| NM_000424.3:c.-120G= | NP_000415.2:n.-120G= |