Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.8094990G>T , CM000686.2:g.8094990G>T | GRCh38 |
| NC_000024.9:g.7963031G>T , CM000686.1:g.7963031G>T | GRCh37 |
| NC_000024.8:g.8023031G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000651148.1:n.325+16860C>A | |
| ENST00000700787.1:n.305+16860C>A | |
| XR_938645.1:n.327-652C>A |