Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7702648G>T , CM000686.2:g.7702648G>T | GRCh38 |
| NC_000024.9:g.7570689G>T , CM000686.1:g.7570689G>T | GRCh37 |
| NC_000024.8:g.7630689G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651261.1:n.677-1385C>A |