Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46011589A= , CM000682.2:g.46011589A= | GRCh38 |
| NC_000020.10:g.44640228A= , CM000682.1:g.44640228A= | GRCh37 |
| NC_000020.9:g.44073635A= | NCBI36 |
| NG_011468.1:g.7682A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372330.3:c.839A= MANE Select | ENSP00000361405.3:p.Asp280= | |
| NM_004994.2:c.839A= | NP_004985.2:p.Asp280= | |
| NM_004994.3:c.839A= MANE Select | NP_004985.2:p.Asp280= |