Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.80011329G>A , CM000669.2:g.80011329G>A | GRCh38 |
| NC_000007.13:g.79640645G>A , CM000669.1:g.79640645G>A | GRCh37 |
| NC_000007.12:g.79478581G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649225.1:c.-337+54263G>A | ENSP00000496829.1:n.-337+54263G>A |