Linked Data
gnomAD v4:
11-130403550-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130403550G>A , CM000673.2:g.130403550G>A | GRCh38 |
| NC_000011.9:g.130273445G>A , CM000673.1:g.130273445G>A | GRCh37 |
| NC_000011.8:g.129778655G>A | NCBI36 |
| NG_052870.1:g.30444C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948177.1:n.2645G>A | ||
| XR_948178.1:n.2299G>A | ||
| XR_948179.1:n.2217G>A | ||
| XR_948180.1:n.2217G>A | ||
| XR_948181.1:n.786G>A | ||
| XR_948182.1:n.2377G>A | ||
| XR_948183.1:n.458+9751G>A | ||
| XR_948184.1:n.708G>A | ||
| XR_948185.1:n.637G>A | ||
| XR_948187.1:n.458+9751G>A | ||
| XR_948188.1:n.540G>A | ||
| XR_948189.1:n.588G>A | ||
| NR_148980.1:n.861G>A |