Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19577812G>A , CM000686.2:g.19577812G>A | GRCh38 |
| NC_000024.9:g.21739698G>A , CM000686.1:g.21739698G>A | GRCh37 |
| NC_000024.8:g.20199086G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686158.1:n.200-9398G>A | ||
| ENST00000686905.1:n.134-9398G>A | ||
| ENST00000693214.1:n.222-9398G>A | ||
| ENST00000445715.6:n.102-9398G>A | ||
| ENST00000407724.7:n.171-9398G>A | ||
| ENST00000445715.5:n.102-9398G>A | ||
| ENST00000447202.2:n.124-9398G>A | ||
| ENST00000447520.5:n.102-9398G>A | ||
| ENST00000459719.6:n.222-9398G>A | ||
| ENST00000538014.2:n.240+8353G>A | ||
| NR_045128.1:n.126-9398G>A | ||
| NR_045129.1:n.126-9398G>A |