Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89776082T>C , CM000677.2:g.89776082T>C | GRCh38 |
| NC_000015.9:g.90319313T>C , CM000677.1:g.90319313T>C | GRCh37 |
| NC_000015.8:g.88120317T>C | NCBI36 |
| NG_008608.1:g.4725T>C | |
| NG_008608.2:g.20492T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000558723.1:n.39-1983T>C | |
| ENST00000560219.2:c.31-1983T>C | ENSP00000452998.1:n.31-1983T>C |