Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46008984G>A , CM000682.2:g.46008984G>A | GRCh38 |
| NC_000020.10:g.44637623G>A , CM000682.1:g.44637623G>A | GRCh37 |
| NC_000020.9:g.44071030G>A | NCBI36 |
| NG_011468.1:g.5077G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.58G>A MANE Select | ENSP00000361405.3:p.Ala20Thr | |
| NM_004994.2:c.58G>A | NP_004985.2:p.Ala20Thr | |
| NM_004994.3:c.58G>A MANE Select | NP_004985.2:p.Ala20Thr |