Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44651777C= , CM000682.2:g.44651777C= | GRCh38 |
| NC_000020.10:g.43280418C= , CM000682.1:g.43280418C= | GRCh37 |
| NC_000020.9:g.42713832C= | NCBI36 |
| NG_007385.1:g.4959G= , LRG_16:g.4959G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000536076.2:c.-121+125G= | ENSP00000512234.1:n.-121+125G= | |
| ENST00000696039.1:n.321+125G= | ||
| ENST00000696062.1:c.96+323G= | ENSP00000512365.1:n.96+323G= | |
| ENST00000696064.1:c.-118+125G= | ENSP00000512367.1:n.-118+125G= | |
| ENST00000696065.1:c.-121+125G= | ENSP00000512368.1:n.-121+125G= | |
| ENST00000535573.1:n.332+125G= | ||
| ENST00000536076.1:n.213+125G= | ||
| XM_011528479.1:c.-257+125G= | XP_011526781.1:n.-257+125G= |