Linked Data
gnomAD v4:
11-130403472-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130403472T>C , CM000673.2:g.130403472T>C | GRCh38 |
| NC_000011.9:g.130273367T>C , CM000673.1:g.130273367T>C | GRCh37 |
| NC_000011.8:g.129778577T>C | NCBI36 |
| NG_052870.1:g.30522A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948177.1:n.2567T>C | ||
| XR_948178.1:n.2221T>C | ||
| XR_948179.1:n.2139T>C | ||
| XR_948180.1:n.2139T>C | ||
| XR_948181.1:n.708T>C | ||
| XR_948182.1:n.2299T>C | ||
| XR_948183.1:n.458+9673T>C | ||
| XR_948184.1:n.630T>C | ||
| XR_948185.1:n.559T>C | ||
| XR_948187.1:n.458+9673T>C | ||
| XR_948188.1:n.462T>C | ||
| XR_948189.1:n.510T>C | ||
| NR_148980.1:n.783T>C |