Linked Data
dbSNP Id:
rs557926467
ExAC:
11:62623028 C / T
gnomAD v2:
11-62623028-C-T
gnomAD v3:
11-62855556-C-T
gnomAD v4:
11-62855556-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62855556C>T , CM000673.2:g.62855556C>T | GRCh38 |
| NC_000011.9:g.62623028C>T , CM000673.1:g.62623028C>T | GRCh37 |
| NC_000011.8:g.62379604C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003098.1:n.25-90G>A | ||
| NR_003098.2:n.22-90G>A | ||
| NR_152575.1:n.330G>A | ||
| NR_152576.1:n.330G>A | ||
| NR_152577.1:n.22-90G>A | ||
| NR_152578.1:n.21+309G>A | ||
| NR_152579.1:n.22-90G>A | ||
| NR_152580.1:n.22-90G>A | ||
| NR_152581.1:n.22-90G>A | ||
| NR_152582.1:n.21+309G>A | ||
| NR_152583.1:n.22-90G>A | ||
| NR_152584.1:n.330G>A | ||
| NR_152585.1:n.330G>A |