Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73323071C= , CM000677.2:g.73323071C= | GRCh38 |
| NC_000015.9:g.73615412C= , CM000677.1:g.73615412C= | GRCh37 |
| NC_000015.8:g.71402465C= | NCBI36 |
| NG_009063.1:g.51194G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3022G= MANE Select | ENSP00000261917.3:p.Ala1008= | |
| ENST00000261917.3:c.3022G= | ENSP00000261917.3:p.Ala1008= | |
| NM_005477.2:c.3022G= | NP_005468.1:p.Ala1008= | |
| XM_011521148.1:c.1804G= | XP_011519450.1:p.Ala602= | |
| XM_011521148.2:c.1804G= | XP_011519450.1:p.Ala602= | |
| NM_005477.3:c.3022G= MANE Select | NP_005468.1:p.Ala1008= |