Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.49524145C= , CM000682.2:g.49524145C= | GRCh38 |
| NC_000020.10:g.48140682C= , CM000682.1:g.48140682C= | GRCh37 |
| NC_000020.9:g.47574089C= | NCBI36 |
| NG_007940.1:g.49026G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000961.4:c.768G= MANE Select | NP_000952.1:p.Leu256= |
| ENST00000244043.5:c.768G= MANE Select | ENSP00000244043.3:p.Leu256= |
| NM_000961.3:c.768G= | NP_000952.1:p.Leu256= |
| ENST00000244043.4:c.768G= | ENSP00000244043.3:p.Leu256= |
| ENST00000478971.1:n.589G= |