Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50531198G= , CM000675.2:g.50531198G= | GRCh38 |
| NC_000013.10:g.51105334G= , CM000675.1:g.51105334G= | GRCh37 |
| NC_000013.9:g.50003335G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000460525.5:n.364-1996G= (DLEU1) | |
| ENST00000462427.1:n.452-1996G= (DLEU1) | |
| ENST00000470726.6:n.346+97648G= (DLEU1) | |
| ENST00000479420.5:n.457+38437G= (DLEU1) | |
| ENST00000484869.6:n.1329+28318G= (DLEU1) | |
| ENST00000651397.1:n.1034-5191C= (DLEU7) |