Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152812G>C , CM000677.2:g.80152812G>C | GRCh38 |
| NC_000015.9:g.80445154G>C , CM000677.1:g.80445154G>C | GRCh37 |
| NC_000015.8:g.78232209G>C | NCBI36 |
| NG_012833.1:g.4814G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.-243G>C | ENSP00000507680.1:n.-243G>C | |
| ENST00000261755.9:c.-59G>C | ENSP00000261755.5:n.-59G>C | |
| ENST00000407106.5:c.-123G>C | ENSP00000385080.1:n.-123G>C | |
| ENST00000537726.5:n.24G>C | ||
| ENST00000558022.5:c.-29-214G>C | ENSP00000453152.1:n.-29-214G>C | |
| ENST00000558767.5:n.19G>C | ||
| NM_001374377.1:c.-123G>C | NP_001361306.1:n.-123G>C | |
| NM_001374380.1:c.-59G>C | NP_001361309.1:n.-59G>C |