Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48728615A>T , CM000679.2:g.48728615A>T | GRCh38 |
| NC_000017.10:g.46805977A>T , CM000679.1:g.46805977A>T | GRCh37 |
| NC_000017.9:g.44160976A>T | NCBI36 |
| NG_033789.1:g.5135T>A , LRG_771:g.5135T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290295.8:c.-22T>A MANE Select | ENSP00000290295.8:n.-22T>A | |
| ENST00000290295.7:c.-22T>A | ENSP00000290295.7:n.-22T>A | |
| NM_006361.5:c.-22T>A , LRG_771t1:c.-22T>A | NP_006352.2:n.-22T>A | |
| NM_006361.6:c.-22T>A MANE Select | NP_006352.2:n.-22T>A |