Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42132561C>T , CM000684.2:g.42132561C>T | GRCh38 |
| NG_008376.3:g.2431G>A | |
| NG_008376.4:g.3250G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417586.1:n.19C>T | ||
| XM_011529967.1:c.-1045-725G>A | XP_011528269.1:n.-1045-725G>A |