Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42132099G>A , CM000684.2:g.42132099G>A | GRCh38 |
| NC_000022.10:g.42528106G>A , CM000684.1:g.42528106G>A | GRCh37 |
| NC_000022.9:g.40858050G>A | NCBI36 |
| NG_008376.3:g.2893C>T | |
| NG_008376.4:g.3712C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011529967.1:c.-1045-263C>T | XP_011528269.1:n.-1045-263C>T |