Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46689290C>T , CM000682.2:g.46689290C>T | GRCh38 |
| NC_000020.10:g.45317929C>T , CM000682.1:g.45317929C>T | GRCh37 |
| NC_000020.9:g.44751336C>T | NCBI36 |
| NG_047182.1:g.196G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033550.4:c.125G>A MANE Select | NP_291028.3:p.Gly42Asp |
| ENST00000372114.4:c.125G>A MANE Select | ENSP00000361186.3:p.Gly42Asp |
| NM_033550.3:c.125G>A | NP_291028.3:p.Gly42Asp |
| ENST00000372102.3:c.125G>A | ENSP00000361174.3:p.Gly42Asp |
| ENST00000372114.3:c.125G>A | ENSP00000361186.3:p.Gly42Asp |