Linked Data
gnomAD v4:
11-130403456-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130403456G>C , CM000673.2:g.130403456G>C | GRCh38 |
| NC_000011.9:g.130273351G>C , CM000673.1:g.130273351G>C | GRCh37 |
| NC_000011.8:g.129778561G>C | NCBI36 |
| NG_052870.1:g.30538C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948177.1:n.2551G>C | ||
| XR_948178.1:n.2205G>C | ||
| XR_948179.1:n.2123G>C | ||
| XR_948180.1:n.2123G>C | ||
| XR_948181.1:n.692G>C | ||
| XR_948182.1:n.2283G>C | ||
| XR_948183.1:n.458+9657G>C | ||
| XR_948184.1:n.614G>C | ||
| XR_948185.1:n.543G>C | ||
| XR_948187.1:n.458+9657G>C | ||
| XR_948188.1:n.446G>C | ||
| XR_948189.1:n.494G>C | ||
| NR_148980.1:n.767G>C |