Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62855385C>T , CM000673.2:g.62855385C>T | GRCh38 |
| NC_000011.9:g.62622857C>T , CM000673.1:g.62622857C>T | GRCh37 |
| NC_000011.8:g.62379433C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003098.1:n.67+39G>A | ||
| NR_003098.2:n.64+39G>A | ||
| NR_152575.1:n.462+39G>A | ||
| NR_152576.1:n.462+39G>A | ||
| NR_152577.1:n.64+39G>A | ||
| NR_152578.1:n.22-169G>A | ||
| NR_152579.1:n.64+39G>A | ||
| NR_152580.1:n.64+39G>A | ||
| NR_152581.1:n.64+39G>A | ||
| NR_152582.1:n.22-169G>A | ||
| NR_152583.1:n.64+39G>A | ||
| NR_152584.1:n.462+39G>A | ||
| NR_152585.1:n.462+39G>A |