Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.9783434T= , CM000685.2:g.9783434T= | GRCh38 |
| NC_000023.10:g.9751474T= , CM000685.1:g.9751474T= | GRCh37 |
| NC_000023.9:g.9711474T= | NCBI36 |
| NG_012493.1:g.1979T= | |
| NG_012493.2:g.1979T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447366.5:c.-3+2808A= | ENSP00000390546.2:n.-3+2808A= | |
| XM_024452387.1:c.-3+2791A= | XP_024308155.1:n.-3+2791A= |