Linked Data
dbSNP Id:
rs942085313
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50620177C>G , CM000675.2:g.50620177C>G | GRCh38 |
| NC_000013.10:g.51194313C>G , CM000675.1:g.51194313C>G | GRCh37 |
| NC_000013.9:g.50092314C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651397.1:n.1033+63729G>C (DLEU7) | ||
| ENST00000470726.6:n.347-99470C>G (DLEU1) | ||
| ENST00000479420.5:n.560-28413C>G (DLEU1) | ||
| ENST00000484869.6:n.1330-11100C>G (DLEU1) |