Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42132027C= , CM000684.2:g.42132027C= | GRCh38 |
| NG_008376.3:g.2965G= | |
| NG_008376.4:g.3784G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011529967.1:c.-1045-191G= | XP_011528269.1:n.-1045-191G= |
| XR_002958749.1:n.276-27C= | |
| XR_430455.2:n.329-27C= |