Linked Data
dbSNP Id:
rs750657304
ExAC:
11:62622879 T / C
gnomAD v2:
11-62622879-T-C
gnomAD v4:
11-62855407-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62855407T>C , CM000673.2:g.62855407T>C | GRCh38 |
| NC_000011.9:g.62622879T>C , CM000673.1:g.62622879T>C | GRCh37 |
| NC_000011.8:g.62379455T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003098.1:n.67+17A>G | ||
| NR_003098.2:n.64+17A>G | ||
| NR_152575.1:n.462+17A>G | ||
| NR_152576.1:n.462+17A>G | ||
| NR_152577.1:n.64+17A>G | ||
| NR_152578.1:n.22-191A>G | ||
| NR_152579.1:n.64+17A>G | ||
| NR_152580.1:n.64+17A>G | ||
| NR_152581.1:n.64+17A>G | ||
| NR_152582.1:n.22-191A>G | ||
| NR_152583.1:n.64+17A>G | ||
| NR_152584.1:n.462+17A>G | ||
| NR_152585.1:n.462+17A>G |