Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.108875068A= , CM000663.2:g.108875068A= | GRCh38 |
| NC_000001.10:g.109417690A= , CM000663.1:g.109417690A= | GRCh37 |
| NC_000001.9:g.109219213A= | NCBI36 |
| NG_028108.1:g.3088A= | |
| NG_028108.2:g.4719A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357393.6:c.1-25492T= | ENSP00000349968.6:n.1-25492T= | |
| ENST00000357393.5:c.115-25492T= | ENSP00000349968.5:n.115-25492T= | |
| XR_001738178.1:n.103+72T= |