Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48560149G= , CM000674.2:g.48560149G= | GRCh38 |
| NC_000012.11:g.48953932G= , CM000674.1:g.48953932G= | GRCh37 |
| NC_000012.10:g.47240199G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001396061.1:c.268G= MANE Select | NP_001382990.1:p.Glu90= |
| ENST00000328207.6:n.268G= |