Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28507775T= , CM000678.2:g.28507775T= | GRCh38 |
| NC_000016.9:g.28519096T= , CM000678.1:g.28519096T= | GRCh37 |
| NC_000016.8:g.28426597T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000568075.1:c.-362-3725A= | ENSP00000455990.1:n.-362-3725A= |
| XM_011545780.1:c.38-3725A= | XP_011544082.1:n.38-3725A= |
| XM_011545780.2:c.38-3725A= | XP_011544082.1:n.38-3725A= |