Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6867521G>A , CM000674.2:g.6867521G>A | GRCh38 |
| NC_000012.11:g.6976685G>A , CM000674.1:g.6976685G>A | GRCh37 |
| NC_000012.10:g.6846946G>A | NCBI36 |
| NG_011948.1:g.5102G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229270.8:c.66G>A | ENSP00000229270.4:p.Pro22= | |
| ENST00000613953.4:c.66G>A | ENSP00000484435.1:p.Pro22= | |
| NM_001159287.1:c.66G>A | NP_001152759.1:p.Pro22= | |
| XR_002957378.1:n.688G>A |