Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56041666C>A , CM000674.2:g.56041666C>A | GRCh38 |
| NC_000012.11:g.56435450C>A , CM000674.1:g.56435450C>A | GRCh37 |
| NC_000012.10:g.54721717C>A | NCBI36 |
| NG_023201.1:g.4765C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.-356-145C>A | ENSP00000348849.5:n.-356-145C>A | |
| XR_944989.1:n.47G>T | ||
| XR_944990.1:n.47G>T | ||
| XR_944989.3:n.338G>T | ||
| XR_944990.3:n.338G>T |