Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44711513G>A , CM000677.2:g.44711513G>A | GRCh38 |
| NC_000015.9:g.45003711G>A , CM000677.1:g.45003711G>A | GRCh37 |
| NC_000015.8:g.42791003G>A | NCBI36 |
| NG_012920.1:g.5027G>A | |
| NG_012920.2:g.5037G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695792.1:n.83+73G>A | ||
| ENST00000544417.5:c.-34G>A | ENSP00000437604.2:n.-34G>A | |
| ENST00000558401.5:c.-34G>A | ENSP00000452780.1:n.-34G>A | |
| ENST00000559720.5:n.27G>A | ||
| ENST00000559916.1:c.-34G>A | ENSP00000453350.1:n.-34G>A | |
| ENST00000561424.5:c.-34G>A | ENSP00000453191.1:n.-34G>A | |
| NM_004048.2:c.-34G>A | NP_004039.1:n.-34G>A | |
| XM_005254549.2:c.-34G>A | XP_005254606.1:n.-34G>A | |
| XM_005254549.3:c.-34G>A | XP_005254606.1:n.-34G>A | |
| XR_002957658.1:n.22G>A |