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