Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110186513C= , CM000675.2:g.110186513C= | GRCh38 |
| NC_000013.10:g.110838860C= , CM000675.1:g.110838860C= | GRCh37 |
| NC_000013.9:g.109636861C= | NCBI36 |
| NG_011544.2:g.125637G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001845.6:c.1769G= MANE Select | NP_001836.3:p.Gly590= |
| ENST00000375820.10:c.1769G= MANE Select | ENSP00000364979.4:p.Gly590= |
| NM_001845.5:c.1769G= | NP_001836.3:p.Gly590= |
| ENST00000375820.8:c.1769G= | ENSP00000364979.4:p.Gly590= |
| ENST00000649738.1:n.1899G= | |
| XM_011521048.1:c.1577G= | XP_011519350.1:p.Gly526= |
| XM_011521048.2:c.1577G= | XP_011519350.1:p.Gly526= |