Linked Data
dbSNP Id:
rs542463348
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50620296A>C , CM000675.2:g.50620296A>C | GRCh38 |
| NC_000013.10:g.51194432A>C , CM000675.1:g.51194432A>C | GRCh37 |
| NC_000013.9:g.50092433A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651397.1:n.1033+63610T>G (DLEU7) | ||
| ENST00000470726.6:n.347-99351A>C (DLEU1) | ||
| ENST00000479420.5:n.560-28294A>C (DLEU1) | ||
| ENST00000484869.6:n.1330-10981A>C (DLEU1) |