Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4315956G= , CM000674.2:g.4315956G= | GRCh38 |
| NC_000012.11:g.4425122G= , CM000674.1:g.4425122G= | GRCh37 |
| NC_000012.10:g.4295383G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000635110.1:c.-146+7200G= | ENSP00000488928.1:n.-146+7200G= |
| ENST00000648100.1:c.721-15324G= | ENSP00000497536.1:n.721-15324G= |
| ENST00000674624.1:c.720+26966G= | ENSP00000501898.1:n.720+26966G= |