Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113904553T>C , CM000673.2:g.113904553T>C | GRCh38 |
| NC_000011.9:g.113775275T>C , CM000673.1:g.113775275T>C | GRCh37 |
| NC_000011.8:g.113280485T>C | NCBI36 |
| NG_011483.1:g.4687T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011543064.1:c.12+5470T>C | XP_011541366.1:n.12+5470T>C |
| XM_024448767.1:c.-242-4742T>C | XP_024304535.1:n.-242-4742T>C |