Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1183604G>A , CM000673.2:g.1183604G>A | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001304359.2:c.5459G>A MANE Select | NP_001291288.1:p.Arg1820Gln |
| ENST00000621226.2:c.5459G>A MANE Select | ENSP00000485659.1:p.Arg1820Gln |
| NM_001304359.1:c.5459G>A | NP_001291288.1:p.Arg1820Gln |