Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942301G>A , CM000672.2:g.94942301G>A | GRCh38 |
| NC_000010.10:g.96702058G>A , CM000672.1:g.96702058G>A | GRCh37 |
| NC_000010.9:g.96692048G>A | NCBI36 |
| NG_008385.1:g.8644G>A | |
| NG_008385.2:g.9144G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.441G>A MANE Select | ENSP00000260682.6:p.Glu147= | |
| ENST00000643112.1:c.441G>A | ENSP00000496202.1:p.Glu147= | |
| ENST00000645207.1:n.594G>A | ||
| ENST00000260682.6:c.441G>A | ENSP00000260682.6:p.Glu147= | |
| ENST00000461906.1:n.466G>A | ||
| ENST00000473496.1:n.212G>A | ||
| NM_000771.3:c.441G>A | NP_000762.2:p.Glu147= | |
| NM_000771.4:c.441G>A MANE Select | NP_000762.2:p.Glu147= |