Linked Data
dbSNP Id:
rs1481802417
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44810064G>C , CM000668.2:g.44810064G>C | GRCh38 |
| NC_000006.11:g.44777801G>C , CM000668.1:g.44777801G>C | GRCh37 |
| NC_000006.10:g.44885779G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475057.5:c.*53-563C>G | ENSP00000436411.1:n.*53-563C>G | |
| XR_926319.1:n.1091-563C>G | ||
| XR_926854.1:n.341-19524G>C | ||
| XR_926855.1:n.172-19524G>C | ||
| NR_146632.1:n.1104-563C>G | ||
| NR_146633.1:n.1166-563C>G | ||
| NR_146634.1:n.1118-563C>G | ||
| NR_146635.1:n.1163-563C>G | ||
| XR_002956310.1:n.1432-563C>G | ||
| XR_926319.3:n.1091-563C>G | ||
| XR_926854.2:n.365-19524G>C | ||
| XR_926855.2:n.246-19524G>C | ||
| NR_146632.2:n.1174-563C>G | ||
| NR_146634.2:n.1160-563C>G | ||
| NR_146635.2:n.1307-563C>G |