Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152758C>A , CM000677.2:g.80152758C>A | GRCh38 |
| NC_000015.9:g.80445100C>A , CM000677.1:g.80445100C>A | GRCh37 |
| NC_000015.8:g.78232155C>A | NCBI36 |
| NG_012833.1:g.4760C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+213C>A | ENSP00000453152.1:n.-30+213C>A |