Linked Data
gnomAD v4:
11-130403391-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130403391G>C , CM000673.2:g.130403391G>C | GRCh38 |
| NC_000011.9:g.130273286G>C , CM000673.1:g.130273286G>C | GRCh37 |
| NC_000011.8:g.129778496G>C | NCBI36 |
| NG_052870.1:g.30603C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948177.1:n.2486G>C | ||
| XR_948178.1:n.2140G>C | ||
| XR_948179.1:n.2058G>C | ||
| XR_948180.1:n.2058G>C | ||
| XR_948181.1:n.627G>C | ||
| XR_948182.1:n.2218G>C | ||
| XR_948183.1:n.458+9592G>C | ||
| XR_948184.1:n.549G>C | ||
| XR_948185.1:n.478G>C | ||
| XR_948187.1:n.458+9592G>C | ||
| XR_948188.1:n.381G>C | ||
| XR_948189.1:n.429G>C | ||
| NR_148980.1:n.702G>C |