Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73329725C= , CM000677.2:g.73329725C= | GRCh38 |
| NC_000015.9:g.73622066C= , CM000677.1:g.73622066C= | GRCh37 |
| NC_000015.8:g.71409119C= | NCBI36 |
| NG_009063.1:g.44540G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005477.3:c.1438G= MANE Select | NP_005468.1:p.Gly480= |
| ENST00000261917.4:c.1438G= MANE Select | ENSP00000261917.3:p.Gly480= |
| NM_005477.2:c.1438G= | NP_005468.1:p.Gly480= |
| ENST00000261917.3:c.1438G= | ENSP00000261917.3:p.Gly480= |
| XM_011521148.1:c.220G= | XP_011519450.1:p.Gly74= |
| XM_011521148.2:c.220G= | XP_011519450.1:p.Gly74= |