Linked Data
gnomAD v4:
11-130403475-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130403475T>C , CM000673.2:g.130403475T>C | GRCh38 |
| NC_000011.9:g.130273370T>C , CM000673.1:g.130273370T>C | GRCh37 |
| NC_000011.8:g.129778580T>C | NCBI36 |
| NG_052870.1:g.30519A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948177.1:n.2570T>C | ||
| XR_948178.1:n.2224T>C | ||
| XR_948179.1:n.2142T>C | ||
| XR_948180.1:n.2142T>C | ||
| XR_948181.1:n.711T>C | ||
| XR_948182.1:n.2302T>C | ||
| XR_948183.1:n.458+9676T>C | ||
| XR_948184.1:n.633T>C | ||
| XR_948185.1:n.562T>C | ||
| XR_948187.1:n.458+9676T>C | ||
| XR_948188.1:n.465T>C | ||
| XR_948189.1:n.513T>C | ||
| NR_148980.1:n.786T>C |