Linked Data
dbSNP Id:
rs1412113150
gnomAD v2:
11-130273350-A-G
gnomAD v3:
11-130403455-A-G
gnomAD v4:
11-130403455-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130403455A>G , CM000673.2:g.130403455A>G | GRCh38 |
| NC_000011.9:g.130273350A>G , CM000673.1:g.130273350A>G | GRCh37 |
| NC_000011.8:g.129778560A>G | NCBI36 |
| NG_052870.1:g.30539T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948177.1:n.2550A>G | ||
| XR_948178.1:n.2204A>G | ||
| XR_948179.1:n.2122A>G | ||
| XR_948180.1:n.2122A>G | ||
| XR_948181.1:n.691A>G | ||
| XR_948182.1:n.2282A>G | ||
| XR_948183.1:n.458+9656A>G | ||
| XR_948184.1:n.613A>G | ||
| XR_948185.1:n.542A>G | ||
| XR_948187.1:n.458+9656A>G | ||
| XR_948188.1:n.445A>G | ||
| XR_948189.1:n.493A>G | ||
| NR_148980.1:n.766A>G |