Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432397G>T , CM000663.2:g.229432397G>T | GRCh38 |
| NC_000001.10:g.229568144G>T , CM000663.1:g.229568144G>T | GRCh37 |
| NC_000001.9:g.227634767G>T | NCBI36 |
| NG_006672.1:g.6700C>A , LRG_429:g.6700C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.489C>A | ENSP00000355644.4:p.His163Gln | |
| ENST00000684723.1:c.354C>A | ENSP00000508084.1:p.His118Gln | |
| ENST00000366683.3:c.479+10C>A | ENSP00000355644.3:n.479+10C>A | |
| ENST00000366684.7:c.489C>A MANE Select | ENSP00000355645.3:p.His163Gln | |
| NM_001100.3:c.489C>A , LRG_429t1:c.489C>A | NP_001091.1:p.His163Gln | |
| NM_001100.4:c.489C>A MANE Select | NP_001091.1:p.His163Gln |