Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47582553G>A , CM000673.2:g.47582553G>A | GRCh38 |
| NC_000011.9:g.47604105G>A , CM000673.1:g.47604105G>A | GRCh37 |
| NC_000011.8:g.47560681G>A | NCBI36 |
| NG_011946.1:g.8544G>A | |
| NG_011946.2:g.8544G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263774.9:c.627+85G>A MANE Select | ENSP00000263774.4:n.627+85G>A | |
| ENST00000531351.2:n.1822+85G>A | ||
| ENST00000677462.1:n.3101+85G>A | ||
| ENST00000678975.1:n.2884+85G>A | ||
| ENST00000263774.8:c.627+85G>A | ENSP00000263774.4:n.627+85G>A | |
| ENST00000525212.1:n.282+85G>A | ||
| ENST00000525378.5:n.565+85G>A | ||
| ENST00000527178.1:n.227+85G>A | ||
| ENST00000533507.5:n.1521+85G>A | ||
| NM_004551.2:c.627+85G>A | NP_004542.1:n.627+85G>A | |
| NM_004551.3:c.627+85G>A MANE Select | NP_004542.1:n.627+85G>A |