Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56041590C= , CM000674.2:g.56041590C= | GRCh38 |
| NC_000012.11:g.56435374C= , CM000674.1:g.56435374C= | GRCh37 |
| NC_000012.10:g.54721641C= | NCBI36 |
| NG_023201.1:g.4689C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.-357+194C= | ENSP00000348849.5:n.-357+194C= | |
| XR_944989.1:n.123G= | ||
| XR_944990.1:n.123G= | ||
| XR_944989.3:n.414G= | ||
| XR_944990.3:n.414G= |