Linked Data
gnomAD v4:
11-130403446-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130403446C>A , CM000673.2:g.130403446C>A | GRCh38 |
| NC_000011.9:g.130273341C>A , CM000673.1:g.130273341C>A | GRCh37 |
| NC_000011.8:g.129778551C>A | NCBI36 |
| NG_052870.1:g.30548G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948177.1:n.2541C>A | ||
| XR_948178.1:n.2195C>A | ||
| XR_948179.1:n.2113C>A | ||
| XR_948180.1:n.2113C>A | ||
| XR_948181.1:n.682C>A | ||
| XR_948182.1:n.2273C>A | ||
| XR_948183.1:n.458+9647C>A | ||
| XR_948184.1:n.604C>A | ||
| XR_948185.1:n.533C>A | ||
| XR_948187.1:n.458+9647C>A | ||
| XR_948188.1:n.436C>A | ||
| XR_948189.1:n.484C>A | ||
| NR_148980.1:n.757C>A |