Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3582585C>T , CM000678.2:g.3582585C>T | GRCh38 |
| NC_000016.9:g.3632586C>T , CM000678.1:g.3632586C>T | GRCh37 |
| NC_000016.8:g.3572587C>T | NCBI36 |
| NG_028123.1:g.34000G>A , LRG_503:g.34000G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294008.4:c.5262G>A MANE Select | ENSP00000294008.3:p.Glu1754= | |
| ENST00000294008.3:c.5262G>A | ENSP00000294008.3:p.Glu1754= | |
| NM_032444.2:c.5262G>A , LRG_503t1:c.5262G>A | NP_115820.2:p.Glu1754= | |
| XM_011522715.1:c.5259G>A | XP_011521017.1:p.Glu1753= | |
| NM_032444.3:c.5262G>A | NP_115820.2:p.Glu1754= | |
| XM_011522715.3:c.5259G>A | XP_011521017.1:p.Glu1753= | |
| XM_017023775.2:c.4440G>A | XP_016879264.1:p.Glu1480= | |
| XM_024450471.1:c.5262G>A | XP_024306239.1:p.Glu1754= | |
| NM_032444.4:c.5262G>A MANE Select | NP_115820.2:p.Glu1754= |