Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.89568689C= , CM000676.2:g.89568689C= | GRCh38 |
| NC_000014.8:g.90035033C= , CM000676.1:g.90035033C= | GRCh37 |
| NC_000014.7:g.89104786C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345097.8:c.-15+50339G= | ENSP00000343288.4:n.-15+50339G= | |
| ENST00000555353.5:c.-15+50339G= | ENSP00000452227.1:n.-15+50339G= | |
| ENST00000555855.5:c.-118+50339G= | ENSP00000451135.1:n.-118+50339G= | |
| NM_001085471.1:c.-15+50339G= | NP_001078940.1:n.-15+50339G= | |
| NM_001085471.2:c.-15+50339G= | NP_001078940.1:n.-15+50339G= |