Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.16525301G>T , CM000681.2:g.16525301G>T | GRCh38 |
| NC_000019.9:g.16636112G>T , CM000681.1:g.16636112G>T | GRCh37 |
| NC_000019.8:g.16497112G>T | NCBI36 |
| NG_031959.2:g.107904C>A , LRG_422:g.107904C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546361.7:c.1682C>A MANE Select | ENSP00000439856.2:p.Pro561His | |
| ENST00000198939.6:c.1715C>A | ENSP00000198939.6:p.Pro572His | |
| ENST00000409035.1:c.*194-5949C>A | ENSP00000386951.2:n.*194-5949C>A | |
| ENST00000544299.5:n.484C>A | ||
| ENST00000546361.6:c.1682C>A | ENSP00000439856.2:p.Pro561His | |
| NM_006387.5:c.1682C>A | NP_006378.3:p.Pro561His | |
| NM_006387.6:c.1682C>A MANE Select | NP_006378.3:p.Pro561His |