Linked Data
gnomAD v4:
11-130403399-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130403399C>A , CM000673.2:g.130403399C>A | GRCh38 |
| NC_000011.9:g.130273294C>A , CM000673.1:g.130273294C>A | GRCh37 |
| NC_000011.8:g.129778504C>A | NCBI36 |
| NG_052870.1:g.30595G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948177.1:n.2494C>A | ||
| XR_948178.1:n.2148C>A | ||
| XR_948179.1:n.2066C>A | ||
| XR_948180.1:n.2066C>A | ||
| XR_948181.1:n.635C>A | ||
| XR_948182.1:n.2226C>A | ||
| XR_948183.1:n.458+9600C>A | ||
| XR_948184.1:n.557C>A | ||
| XR_948185.1:n.486C>A | ||
| XR_948187.1:n.458+9600C>A | ||
| XR_948188.1:n.389C>A | ||
| XR_948189.1:n.437C>A | ||
| NR_148980.1:n.710C>A |