Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152868T>C , CM000677.2:g.80152868T>C | GRCh38 |
| NC_000015.9:g.80445210T>C , CM000677.1:g.80445210T>C | GRCh37 |
| NC_000015.8:g.78232265T>C | NCBI36 |
| NG_012833.1:g.4870T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.-187T>C | ENSP00000507680.1:n.-187T>C | |
| ENST00000261755.9:c.-30+27T>C | ENSP00000261755.5:n.-30+27T>C | |
| ENST00000407106.5:c.-67T>C | ENSP00000385080.1:n.-67T>C | |
| ENST00000537726.5:n.53+27T>C | ||
| ENST00000558022.5:c.-29-158T>C | ENSP00000453152.1:n.-29-158T>C | |
| ENST00000558767.5:n.75T>C | ||
| ENST00000561369.1:n.14T>C | ||
| XM_024449872.1:c.-67T>C | XP_024305640.1:n.-67T>C | |
| NM_001374377.1:c.-67T>C | NP_001361306.1:n.-67T>C | |
| NM_001374380.1:c.-30+27T>C | NP_001361309.1:n.-30+27T>C |