Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160882040C= , CM000663.2:g.160882040C= | GRCh38 |
| NC_000001.10:g.160851830C= , CM000663.1:g.160851830C= | GRCh37 |
| NC_000001.9:g.159118454C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326245.4:c.322G= MANE Select | ENSP00000323587.3:p.Ala108= | |
| ENST00000326245.3:c.322G= | ENSP00000323587.3:p.Ala108= | |
| ENST00000464077.1:n.256G= | ||
| NM_017625.2:c.322G= | NP_060095.2:p.Ala108= | |
| NM_017625.3:c.322G= MANE Select | NP_060095.2:p.Ala108= |