Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152792C>G , CM000677.2:g.80152792C>G | GRCh38 |
| NC_000015.9:g.80445134C>G , CM000677.1:g.80445134C>G | GRCh37 |
| NC_000015.8:g.78232189C>G | NCBI36 |
| NG_012833.1:g.4794C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407106.5:c.-143C>G | ENSP00000385080.1:n.-143C>G | |
| ENST00000537726.5:n.4C>G | ||
| ENST00000558022.5:c.-29-234C>G | ENSP00000453152.1:n.-29-234C>G | |
| NM_001374377.1:c.-143C>G | NP_001361306.1:n.-143C>G | |
| NM_001374380.1:c.-79C>G | NP_001361309.1:n.-79C>G |