Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42132026T= , CM000684.2:g.42132026T= | GRCh38 |
| NC_000022.10:g.42528033T= , CM000684.1:g.42528033T= | GRCh37 |
| NC_000022.9:g.40857977T= | NCBI36 |
| NG_008376.3:g.2966A= | |
| NG_008376.4:g.3785A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011529967.1:c.-1045-190A= | XP_011528269.1:n.-1045-190A= |
| XR_002958749.1:n.276-28T= | |
| XR_430455.2:n.329-28T= |