Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42132851T>C , CM000684.2:g.42132851T>C | GRCh38 |
| NG_008376.3:g.2141A>G | |
| NG_008376.4:g.2960A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000417586.1:n.309T>C | |
| XM_011529967.1:c.-1045-1015A>G | XP_011528269.1:n.-1045-1015A>G |