Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56041702G>C , CM000674.2:g.56041702G>C | GRCh38 |
| NC_000012.11:g.56435486G>C , CM000674.1:g.56435486G>C | GRCh37 |
| NC_000012.10:g.54721753G>C | NCBI36 |
| NG_023201.1:g.4801G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.-356-109G>C | ENSP00000348849.5:n.-356-109G>C | |
| XR_944989.1:n.11C>G | ||
| XR_944990.1:n.11C>G | ||
| XR_944989.3:n.302C>G | ||
| XR_944990.3:n.302C>G |