Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56041654C>A , CM000674.2:g.56041654C>A | GRCh38 |
| NC_000012.11:g.56435438C>A , CM000674.1:g.56435438C>A | GRCh37 |
| NC_000012.10:g.54721705C>A | NCBI36 |
| NG_023201.1:g.4753C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.-356-157C>A | ENSP00000348849.5:n.-356-157C>A | |
| XR_944989.1:n.59G>T | ||
| XR_944990.1:n.59G>T | ||
| XR_944989.3:n.350G>T | ||
| XR_944990.3:n.350G>T |