Linked Data
gnomAD v4:
11-130403515-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130403515T>C , CM000673.2:g.130403515T>C | GRCh38 |
| NC_000011.9:g.130273410T>C , CM000673.1:g.130273410T>C | GRCh37 |
| NC_000011.8:g.129778620T>C | NCBI36 |
| NG_052870.1:g.30479A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948177.1:n.2610T>C | ||
| XR_948178.1:n.2264T>C | ||
| XR_948179.1:n.2182T>C | ||
| XR_948180.1:n.2182T>C | ||
| XR_948181.1:n.751T>C | ||
| XR_948182.1:n.2342T>C | ||
| XR_948183.1:n.458+9716T>C | ||
| XR_948184.1:n.673T>C | ||
| XR_948185.1:n.602T>C | ||
| XR_948187.1:n.458+9716T>C | ||
| XR_948188.1:n.505T>C | ||
| XR_948189.1:n.553T>C | ||
| NR_148980.1:n.826T>C |