Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44711509T>A , CM000677.2:g.44711509T>A | GRCh38 |
| NC_000015.9:g.45003707T>A , CM000677.1:g.45003707T>A | GRCh37 |
| NC_000015.8:g.42790999T>A | NCBI36 |
| NG_012920.1:g.5023T>A | |
| NG_012920.2:g.5033T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695792.1:n.83+69T>A | ||
| ENST00000544417.5:c.-38T>A | ENSP00000437604.2:n.-38T>A | |
| ENST00000558401.5:c.-38T>A | ENSP00000452780.1:n.-38T>A | |
| ENST00000559720.5:n.23T>A | ||
| ENST00000561424.5:c.-38T>A | ENSP00000453191.1:n.-38T>A | |
| NM_004048.2:c.-38T>A | NP_004039.1:n.-38T>A | |
| XM_005254549.2:c.-38T>A | XP_005254606.1:n.-38T>A | |
| XM_005254549.3:c.-38T>A | XP_005254606.1:n.-38T>A | |
| XR_002957658.1:n.18T>A |