Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.67884925G>A , CM000672.2:g.67884925G>A | GRCh38 |
| NC_000010.10:g.69644683G>A , CM000672.1:g.69644683G>A | GRCh37 |
| NC_000010.9:g.69314689G>A | NCBI36 |
| NG_050664.1:g.5264G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012238.5:c.204G>A MANE Select | NP_036370.2:p.Pro68= |
| ENST00000212015.11:c.204G>A MANE Select | ENSP00000212015.6:p.Pro68= |
| NM_012238.4:c.204G>A | NP_036370.2:p.Pro68= |
| ENST00000212015.10:c.204G>A | ENSP00000212015.6:p.Pro68= |
| XM_006717737.2:c.204G>A | XP_006717800.1:p.Pro68= |