Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48728081A= , CM000679.2:g.48728081A= | GRCh38 |
| NC_000017.10:g.46805443A= , CM000679.1:g.46805443A= | GRCh37 |
| NC_000017.9:g.44160442A= | NCBI36 |
| NG_033789.1:g.5669T= , LRG_771:g.5669T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006361.6:c.513T= MANE Select | NP_006352.2:p.Ser171= |
| ENST00000290295.8:c.513T= MANE Select | ENSP00000290295.8:p.Ser171= |
| NM_006361.5:c.513T= , LRG_771t1:c.513T= | NP_006352.2:p.Ser171= |
| ENST00000290295.7:c.513T= | ENSP00000290295.7:p.Ser171= |