Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30235874A= , CM000679.2:g.30235874A= | GRCh38 |
| NC_000017.10:g.28562892A= , CM000679.1:g.28562892A= | GRCh37 |
| NC_000017.9:g.25587018A= | NCBI36 |
| NG_011747.2:g.5063T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261707.7:c.-482T= | ENSP00000261707.3:n.-482T= | |
| ENST00000401766.6:c.-385T= | ENSP00000385822.2:n.-385T= | |
| NM_001045.5:c.-482T= | NP_001036.1:n.-482T= |