Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52236941T>C , CM000668.2:g.52236941T>C | GRCh38 |
| NC_000006.11:g.52101739T>C , CM000668.1:g.52101739T>C | GRCh37 |
| NC_000006.10:g.52209698T>C | NCBI36 |
| NG_031869.1:g.12560A>G , LRG_356:g.12560A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_052872.4:c.482A>G MANE Select | NP_443104.1:p.His161Arg |
| ENST00000336123.5:c.482A>G MANE Select | ENSP00000337432.4:p.His161Arg |
| NM_052872.3:c.482A>G , LRG_356t1:c.482A>G | NP_443104.1:p.His161Arg |
| ENST00000336123.4:c.482A>G | ENSP00000337432.4:p.His161Arg |
| ENST00000478427.1:n.666A>G | |
| ENST00000699946.1:c.482A>G | ENSP00000514702.1:p.His161Arg |
| XM_011514276.1:c.482A>G | XP_011512578.1:p.His161Arg |