Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88299792T>A , CM000666.2:g.88299792T>A | GRCh38 |
| NC_000004.11:g.89220944T>A , CM000666.1:g.89220944T>A | GRCh37 |
| NC_000004.10:g.89439968T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_134236.1:n.133-12004T>A | |
| NR_134237.1:n.132+14731T>A | |
| NR_134238.1:n.133-12004T>A | |
| XR_244670.3:n.349-12004T>A | |
| XR_938963.1:n.349-12004T>A |