Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.92290575C= , CM000674.2:g.92290575C= | GRCh38 |
| NC_000012.11:g.92684351C= , CM000674.1:g.92684351C= | GRCh37 |
| NC_000012.10:g.91208482C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011539067.1:c.124+3850G= | XP_011537369.1:n.124+3850G= |
| XR_001749257.2:n.414-17959G= | |
| XR_001749258.2:n.414-21596G= | |
| XR_001749259.2:n.414-1968G= | |
| XR_945204.1:n.413-21596G= |