Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50620220G= , CM000675.2:g.50620220G= | GRCh38 |
| NC_000013.10:g.51194356G= , CM000675.1:g.51194356G= | GRCh37 |
| NC_000013.9:g.50092357G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651397.1:n.1033+63686C= (DLEU7) | ||
| ENST00000470726.6:n.347-99427G= (DLEU1) | ||
| ENST00000479420.5:n.560-28370G= (DLEU1) | ||
| ENST00000484869.6:n.1330-11057G= (DLEU1) |