Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22029548T>A , CM000671.2:g.22029548T>A | GRCh38 |
| NC_000009.11:g.22029547T>A , CM000671.1:g.22029547T>A | GRCh37 |
| NC_000009.10:g.22019547T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_003529.3:n.487T>A | |
| NR_047532.1:n.487T>A | |
| NR_047533.1:n.372-17203T>A | |
| NR_047534.1:n.372-17203T>A | |
| NR_047535.1:n.372-17203T>A | |
| NR_047536.1:n.372-17203T>A | |
| NR_047537.1:n.372-17203T>A | |
| NR_047538.1:n.372-17203T>A | |
| NR_047539.1:n.487T>A | |
| NR_047540.1:n.372-17203T>A | |
| NR_047541.1:n.372-17203T>A | |
| NR_047542.1:n.372-17203T>A | |
| NR_047543.1:n.372-17203T>A | |
| NR_120536.1:n.372-17203T>A | |
| ENST00000404796.2:c.*31T>A | ENSP00000385916.2:n.*31T>A |
| ENST00000404796.3:c.*31T>A | ENSP00000385916.2:n.*31T>A |