Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65029542G>A , CM000677.2:g.65029542G>A | GRCh38 |
| NC_000015.9:g.65321880G>A , CM000677.1:g.65321880G>A | GRCh37 |
| NC_000015.8:g.63108933G>A | NCBI36 |
| NG_029184.1:g.5098C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220058.9:c.72C>T MANE Select | ENSP00000220058.4:p.Pro24= | |
| ENST00000220058.8:c.72C>T | ENSP00000220058.4:p.Pro24= | |
| ENST00000543678.1:c.72C>T | ENSP00000443754.1:p.Pro24= | |
| ENST00000558460.5:c.72C>T | ENSP00000452646.1:p.Pro24= | |
| ENST00000558614.1:n.33C>T | ||
| ENST00000560717.5:c.57C>T | ENSP00000457257.1:p.Pro19= | |
| NM_139242.3:c.72C>T | NP_640335.2:p.Pro24= | |
| XM_005254158.5:c.72C>T | XP_005254215.2:p.Pro24= | |
| XR_001751081.1:n.87C>T | ||
| NM_139242.4:c.72C>T MANE Select | NP_640335.2:p.Pro24= |