Linked Data
dbSNP Id:
rs983565743
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130403105T>C , CM000673.2:g.130403105T>C | GRCh38 |
| NC_000011.9:g.130273000T>C , CM000673.1:g.130273000T>C | GRCh37 |
| NC_000011.8:g.129778210T>C | NCBI36 |
| NG_052870.1:g.30889A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948177.1:n.2200T>C | ||
| XR_948178.1:n.1854T>C | ||
| XR_948179.1:n.1772T>C | ||
| XR_948180.1:n.1772T>C | ||
| XR_948181.1:n.537-196T>C | ||
| XR_948182.1:n.1932T>C | ||
| XR_948183.1:n.458+9306T>C | ||
| XR_948184.1:n.459-196T>C | ||
| XR_948185.1:n.388-196T>C | ||
| XR_948187.1:n.458+9306T>C | ||
| XR_948188.1:n.291-196T>C | ||
| XR_948189.1:n.339-196T>C | ||
| NR_148980.1:n.612-196T>C |