Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46011586A= , CM000682.2:g.46011586A= | GRCh38 |
| NC_000020.10:g.44640225A= , CM000682.1:g.44640225A= | GRCh37 |
| NC_000020.9:g.44073632A= | NCBI36 |
| NG_011468.1:g.7679A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372330.3:c.836A= MANE Select | ENSP00000361405.3:p.Gln279= | |
| NM_004994.2:c.836A= | NP_004985.2:p.Gln279= | |
| NM_004994.3:c.836A= MANE Select | NP_004985.2:p.Gln279= |