Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8518219G>A , CM000674.2:g.8518219G>A | GRCh38 |
| NC_000012.11:g.8670815G>A , CM000674.1:g.8670815G>A | GRCh37 |
| NC_000012.10:g.8562082G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_080387.5:c.177G>A MANE Select | NP_525126.2:p.Glu59= |
| ENST00000299665.3:c.177G>A MANE Select | ENSP00000299665.2:p.Glu59= |
| NM_080387.4:c.177G>A | NP_525126.2:p.Glu59= |
| ENST00000299665.2:c.177G>A | ENSP00000299665.2:p.Glu59= |
| ENST00000382064.6:c.177G>A | ENSP00000371496.2:p.Glu59= |
| XM_011520632.1:c.177G>A | XP_011518934.1:p.Glu59= |
| XM_011520632.2:c.177G>A | XP_011518934.1:p.Glu59= |
| XM_011520633.1:c.177G>A | XP_011518935.1:p.Glu59= |
| XM_011520633.2:c.177G>A | XP_011518935.1:p.Glu59= |