Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.80011312G= , CM000669.2:g.80011312G= | GRCh38 |
| NC_000007.13:g.79640628G= , CM000669.1:g.79640628G= | GRCh37 |
| NC_000007.12:g.79478564G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649225.1:c.-337+54246G= | ENSP00000496829.1:n.-337+54246G= |