Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52520458G= , CM000674.2:g.52520458G= | GRCh38 |
| NC_000012.11:g.52914242G= , CM000674.1:g.52914242G= | GRCh37 |
| NC_000012.10:g.51200509G= | NCBI36 |
| NG_008297.1:g.5002C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.8:c.-162C= | ENSP00000252242.4:n.-162C= | |
| ENST00000546577.1:c.-74C= | ENSP00000449651.1:n.-74C= | |
| NM_000424.3:c.-162C= | NP_000415.2:n.-162C= |