Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90271259A>T , CM000677.2:g.90271259A>T | GRCh38 |
| NC_000015.9:g.90814491A>T , CM000677.1:g.90814491A>T | GRCh37 |
| NC_000015.8:g.88615495A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001033088.3:c.347A>T MANE Select | NP_001028260.2:p.Asp116Val |
| ENST00000379095.5:c.347A>T MANE Select | ENSP00000368389.4:p.Asp116Val |
| NM_001033088.1:c.347A>T | NP_001028260.2:p.Asp116Val |
| NR_028052.1:n.808A>T | |
| ENST00000331497.3:n.812A>T | |
| ENST00000379095.4:c.347A>T | ENSP00000368389.3:p.Asp116Val |
| ENST00000411845.3:c.57-4188A>T | ENSP00000480153.1:n.57-4188A>T |
| ENST00000561573.1:c.*1971A>T | ENSP00000456615.1:n.*1971A>T |
| ENST00000622269.1:c.82+4861A>T |