Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152821C>A , CM000677.2:g.80152821C>A | GRCh38 |
| NC_000015.9:g.80445163C>A , CM000677.1:g.80445163C>A | GRCh37 |
| NC_000015.8:g.78232218C>A | NCBI36 |
| NG_012833.1:g.4823C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.-234C>A | ENSP00000507680.1:n.-234C>A | |
| ENST00000261755.9:c.-50C>A | ENSP00000261755.5:n.-50C>A | |
| ENST00000407106.5:c.-114C>A | ENSP00000385080.1:n.-114C>A | |
| ENST00000537726.5:n.33C>A | ||
| ENST00000558022.5:c.-29-205C>A | ENSP00000453152.1:n.-29-205C>A | |
| ENST00000558767.5:n.28C>A | ||
| NM_001374377.1:c.-114C>A | NP_001361306.1:n.-114C>A | |
| NM_001374380.1:c.-50C>A | NP_001361309.1:n.-50C>A |