Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.22329348T>C , CM000686.2:g.22329348T>C | GRCh38 |
| NC_000024.9:g.24475495T>C , CM000686.1:g.24475495T>C | GRCh37 |
| NC_000024.8:g.22884883T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000414629.6:c.-5+20378T>C | ENSP00000405745.2:n.-5+20378T>C | |
| ENST00000445779.6:c.-5+20378T>C | ENSP00000389621.2:n.-5+20378T>C |