Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.8816775G>A , CM000686.2:g.8816775G>A | GRCh38 |
| NC_000024.9:g.8684816G>A , CM000686.1:g.8684816G>A | GRCh37 |
| NC_000024.8:g.8744816G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_001548.2:n.37+571C>T | |
| ENST00000253470.4:n.37+571C>T |