Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5254956A= , CM000673.2:g.5254956A= | GRCh38 |
| NC_000011.9:g.5276186A= , CM000673.1:g.5276186A= | GRCh37 |
| NC_000011.8:g.5232762A= | NCBI36 |
| NG_000007.3:g.42660T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000380252.5:c.63-442T= | ENSP00000369602.1:n.63-442T= |
| ENST00000380252.6:c.-73-442T= | ENSP00000369602.2:n.-73-442T= |
| ENST00000380259.6:c.-228T= | ENSP00000369609.2:n.-228T= |
| ENST00000380259.7:c.1319T= | ENSP00000369609.3:n.1319T= |
| ENST00000643199.1:n.1262T= | |
| ENST00000646569.1:n.489T= |