Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.120009066G>A , CM000670.2:g.120009066G>A | GRCh38 |
| NC_000008.10:g.121021305G>A , CM000670.1:g.121021305G>A | GRCh37 |
| NC_000008.9:g.121090486G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022783.4:c.1034G>A MANE Select | NP_073620.2:p.Arg345Gln |
| ENST00000286234.6:c.1034G>A MANE Select | ENSP00000286234.5:p.Arg345Gln |
| NM_001283012.1:c.731G>A | NP_001269941.1:p.Arg244Gln |
| NM_001283012.2:c.731G>A | NP_001269941.1:p.Arg244Gln |
| NM_022783.3:c.1034G>A | NP_073620.2:p.Arg345Gln |
| ENST00000286234.5:c.1034G>A | ENSP00000286234.5:p.Arg345Gln |
| ENST00000518057.1:n.483G>A | |
| ENST00000523492.5:c.731G>A | ENSP00000430457.1:p.Arg244Gln |
| XM_017013735.1:c.605G>A | XP_016869224.1:p.Arg202Gln |