Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56594229G>A , CM000679.2:g.56594229G>A | GRCh38 |
| NC_000017.10:g.54671590G>A , CM000679.1:g.54671590G>A | GRCh37 |
| NC_000017.9:g.52026589G>A | NCBI36 |
| NG_011958.1:g.5531G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.6G>A MANE Select | ENSP00000328181.4:p.Glu2= | |
| ENST00000332822.4:c.6G>A | ENSP00000328181.4:p.Glu2= | |
| NM_005450.4:c.6G>A | NP_005441.1:p.Glu2= | |
| NM_005450.6:c.6G>A MANE Select | NP_005441.1:p.Glu2= |