Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71166082G= , CM000674.2:g.71166082G= | GRCh38 |
| NC_000012.11:g.71559862G= , CM000674.1:g.71559862G= | GRCh37 |
| NC_000012.10:g.69846129G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000393330.6:c.-109-8295C= | ENSP00000377003.2:n.-109-8295C= |
| ENST00000549421.1:n.207-8295C= |