Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152866G>A , CM000677.2:g.80152866G>A | GRCh38 |
| NC_000015.9:g.80445208G>A , CM000677.1:g.80445208G>A | GRCh37 |
| NC_000015.8:g.78232263G>A | NCBI36 |
| NG_012833.1:g.4868G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.-189G>A | ENSP00000507680.1:n.-189G>A | |
| ENST00000261755.9:c.-30+25G>A | ENSP00000261755.5:n.-30+25G>A | |
| ENST00000407106.5:c.-69G>A | ENSP00000385080.1:n.-69G>A | |
| ENST00000537726.5:n.53+25G>A | ||
| ENST00000558022.5:c.-29-160G>A | ENSP00000453152.1:n.-29-160G>A | |
| ENST00000558767.5:n.73G>A | ||
| ENST00000561369.1:n.12G>A | ||
| XM_024449872.1:c.-69G>A | XP_024305640.1:n.-69G>A | |
| NM_001374377.1:c.-69G>A | NP_001361306.1:n.-69G>A | |
| NM_001374380.1:c.-30+25G>A | NP_001361309.1:n.-30+25G>A |