Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44651841A= , CM000682.2:g.44651841A= | GRCh38 |
| NC_000020.10:g.43280482A= , CM000682.1:g.43280482A= | GRCh37 |
| NC_000020.9:g.42713896A= | NCBI36 |
| NG_007385.1:g.4895T= , LRG_16:g.4895T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000536076.2:c.-121+61T= | ENSP00000512234.1:n.-121+61T= | |
| ENST00000696039.1:n.321+61T= | ||
| ENST00000696062.1:c.96+259T= | ENSP00000512365.1:n.96+259T= | |
| ENST00000696064.1:c.-118+61T= | ENSP00000512367.1:n.-118+61T= | |
| ENST00000696065.1:c.-121+61T= | ENSP00000512368.1:n.-121+61T= | |
| ENST00000535573.1:n.332+61T= | ||
| ENST00000536076.1:n.213+61T= | ||
| XM_011528479.1:c.-257+61T= | XP_011526781.1:n.-257+61T= |