Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.129811481C>T , CM000685.2:g.129811481C>T | GRCh38 |
| NC_000023.10:g.128945457C>T , CM000685.1:g.128945457C>T | GRCh37 |
| NC_000023.9:g.128773138C>T | NCBI36 |
| NG_021387.1:g.37454G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016032.4:c.806G>A MANE Select | NP_057116.2:p.Arg269His |
| ENST00000357166.11:c.806G>A MANE Select | ENSP00000349689.6:p.Arg269His |
| NM_001008222.2:c.806G>A | NP_001008223.1:p.Arg269His |
| NM_001008222.3:c.806G>A | NP_001008223.1:p.Arg269His |
| NM_016032.3:c.806G>A | NP_057116.2:p.Arg269His |
| ENST00000357166.10:c.806G>A | ENSP00000349689.6:p.Arg269His |
| ENST00000371064.7:c.806G>A | ENSP00000360103.3:p.Arg269His |
| ENST00000433917.5:c.547G>A | |
| XR_001755694.2:n.1310G>A |