Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50532419C= , CM000675.2:g.50532419C= | GRCh38 |
| NC_000013.10:g.51106555C= , CM000675.1:g.51106555C= | GRCh37 |
| NC_000013.9:g.50004556C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000460525.5:n.364-775C= (DLEU1) | |
| ENST00000462427.1:n.452-775C= (DLEU1) | |
| ENST00000470726.6:n.346+98869C= (DLEU1) | |
| ENST00000479420.5:n.457+39658C= (DLEU1) | |
| ENST00000484869.6:n.1329+29539C= (DLEU1) | |
| ENST00000651397.1:n.1034-6412G= (DLEU7) |