Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19602615G>A , CM000686.2:g.19602615G>A | GRCh38 |
| NC_000024.9:g.21764501G>A , CM000686.1:g.21764501G>A | GRCh37 |
| NC_000024.8:g.20223889G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_045128.1:n.1274+304G>A | |
| ENST00000253320.8:n.4821+304G>A | |
| ENST00000445715.5:n.1591+304G>A | |
| ENST00000445715.6:n.1250+304G>A | |
| ENST00000592697.1:n.586+304G>A |