Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142741199C= , CM000670.2:g.142741199C= | GRCh38 |
| NC_000008.10:g.143822617C= , CM000670.1:g.143822617C= | GRCh37 |
| NC_000008.9:g.143819619C= | NCBI36 |
| NG_011494.1:g.6213G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020427.3:c.256G= MANE Select | NP_065160.1:p.Gly86= |
| ENST00000246515.2:c.256G= MANE Select | ENSP00000246515.1:p.Gly86= |
| NM_020427.2:c.256G= | NP_065160.1:p.Gly86= |
| ENST00000246515.1:c.256G= | ENSP00000246515.1:p.Gly86= |