Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.108875057C= , CM000663.2:g.108875057C= | GRCh38 |
| NC_000001.10:g.109417679C= , CM000663.1:g.109417679C= | GRCh37 |
| NC_000001.9:g.109219202C= | NCBI36 |
| NG_028108.1:g.3077C= | |
| NG_028108.2:g.4708C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000357393.5:c.115-25481G= | ENSP00000349968.5:n.115-25481G= |
| ENST00000357393.6:c.1-25481G= | ENSP00000349968.6:n.1-25481G= |
| XR_001738178.1:n.103+83G= |