Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.112319146G>C , CM000672.2:g.112319146G>C | GRCh38 |
| NC_000010.10:g.114078904G>C , CM000672.1:g.114078904G>C | GRCh37 |
| NC_000010.9:g.114068894G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000479705.5:n.2245-1090C>G | ||
| ENST00000490269.1:n.461-1090C>G | ||
| NR_028134.1:n.1994-1090C>G |