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