Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133539152T= , CM000672.2:g.133539152T= | GRCh38 |
| NC_000010.10:g.135352656T= , CM000672.1:g.135352656T= | GRCh37 |
| NC_000010.9:g.135202646T= | NCBI36 |
| NG_008383.1:g.16790T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368520.1:n.1358+1260T= |