Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40472154G>A , CM000677.2:g.40472154G>A | GRCh38 |
| NC_000015.9:g.40764353G>A , CM000677.1:g.40764353G>A | GRCh37 |
| NC_000015.8:g.38551645G>A | NCBI36 |
| NG_017074.1:g.6194G>A , LRG_600:g.6194G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_130468.4:c.941G>A MANE Select | NP_569735.1:p.Arg314Gln |
| ENST00000306243.7:c.941G>A MANE Select | ENSP00000307297.6:p.Arg314Gln |
| NM_130468.3:c.941G>A , LRG_600t1:c.941G>A | NP_569735.1:p.Arg314Gln |
| ENST00000306243.6:c.941G>A | ENSP00000307297.5:p.Arg314Gln |
| ENST00000559991.1:c.866G>A | ENSP00000453882.1:p.Arg289Gln |