Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48728228G= , CM000679.2:g.48728228G= | GRCh38 |
| NC_000017.10:g.46805590G= , CM000679.1:g.46805590G= | GRCh37 |
| NC_000017.9:g.44160589G= | NCBI36 |
| NG_033789.1:g.5522C= , LRG_771:g.5522C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006361.6:c.366C= MANE Select | NP_006352.2:p.Ser122= |
| ENST00000290295.8:c.366C= MANE Select | ENSP00000290295.8:p.Ser122= |
| NM_006361.5:c.366C= , LRG_771t1:c.366C= | NP_006352.2:p.Ser122= |
| ENST00000290295.7:c.366C= | ENSP00000290295.7:p.Ser122= |