Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.89568631A= , CM000676.2:g.89568631A= | GRCh38 |
| NC_000014.8:g.90034975A= , CM000676.1:g.90034975A= | GRCh37 |
| NC_000014.7:g.89104728A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345097.8:c.-15+50397T= | ENSP00000343288.4:n.-15+50397T= | |
| ENST00000555353.5:c.-15+50397T= | ENSP00000452227.1:n.-15+50397T= | |
| ENST00000555855.5:c.-118+50397T= | ENSP00000451135.1:n.-118+50397T= | |
| NM_001085471.1:c.-15+50397T= | NP_001078940.1:n.-15+50397T= | |
| NM_001085471.2:c.-15+50397T= | NP_001078940.1:n.-15+50397T= |