Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46011590C= , CM000682.2:g.46011590C= | GRCh38 |
| NC_000020.10:g.44640229C= , CM000682.1:g.44640229C= | GRCh37 |
| NC_000020.9:g.44073636C= | NCBI36 |
| NG_011468.1:g.7683C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372330.3:c.840C= MANE Select | ENSP00000361405.3:p.Asp280= | |
| NM_004994.2:c.840C= | NP_004985.2:p.Asp280= | |
| NM_004994.3:c.840C= MANE Select | NP_004985.2:p.Asp280= |