Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50620313A>G , CM000675.2:g.50620313A>G | GRCh38 |
| NC_000013.10:g.51194449A>G , CM000675.1:g.51194449A>G | GRCh37 |
| NC_000013.9:g.50092450A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651397.1:n.1033+63593T>C (DLEU7) | ||
| ENST00000470726.6:n.347-99334A>G (DLEU1) | ||
| ENST00000479420.5:n.560-28277A>G (DLEU1) | ||
| ENST00000484869.6:n.1330-10964A>G (DLEU1) |