Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62896153G= , CM000672.2:g.62896153G= | GRCh38 |
| NC_000010.10:g.64655913G= , CM000672.1:g.64655913G= | GRCh37 |
| NC_000010.9:g.64325919G= | NCBI36 |
| NG_008936.2:g.28748C= , LRG_239:g.28748C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000493899.2:n.417-1616C= | |
| XM_011539428.1:c.-215-1616C= | XP_011537730.1:n.-215-1616C= |
| XR_001747465.1:n.424-1616C= | |
| XR_001747466.1:n.424-601C= |