Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14208804C= , CM000679.2:g.14208804C= | GRCh38 |
| NC_000017.10:g.14112121C= , CM000679.1:g.14112121C= | GRCh37 |
| NC_000017.9:g.14052846C= | NCBI36 |
| NG_008034.1:g.144403C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000664217.1:c.*281+25C= | ENSP00000499396.1:n.*281+25C= | |
| ENST00000670279.1:c.929-705C= | ENSP00000499450.1:n.929-705C= | |
| XR_933974.1:n.1032-705C= |