Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40170586A>G , CM000677.2:g.40170586A>G | GRCh38 |
| NC_000015.9:g.40462787A>G , CM000677.1:g.40462787A>G | GRCh37 |
| NC_000015.8:g.38250079A>G | NCBI36 |
| NG_016338.1:g.14578A>G , LRG_489:g.14578A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287598.11:c.289A>G MANE Select | ENSP00000287598.7:p.Asn97Asp | |
| ENST00000287598.10:c.289A>G | ENSP00000287598.6:p.Asn97Asp | |
| ENST00000412359.7:c.331A>G | ENSP00000398470.3:p.Asn111Asp | |
| ENST00000558715.5:c.*122A>G | ENSP00000453861.1:n.*122A>G | |
| ENST00000559414.5:n.452+15A>G | ||
| ENST00000560120.5:n.343A>G | ||
| NM_001211.5:c.289A>G , LRG_489t1:c.289A>G | NP_001202.4:p.Asn97Asp | |
| NM_001211.6:c.289A>G MANE Select | NP_001202.5:p.Asn97Asp |