Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21303543G>A , CM000676.2:g.21303543G>A | GRCh38 |
| NC_000014.8:g.21771702G>A , CM000676.1:g.21771702G>A | GRCh37 |
| NC_000014.7:g.20841542G>A | NCBI36 |
| NG_008933.1:g.20567G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020366.4:c.800G>A MANE Select | NP_065099.3:p.Arg267Gln |
| ENST00000400017.7:c.800G>A MANE Select | ENSP00000382895.2:p.Arg267Gln |
| NM_020366.3:c.800G>A | NP_065099.3:p.Arg267Gln |
| ENST00000400017.6:c.800G>A | ENSP00000382895.2:p.Arg267Gln |
| ENST00000556336.5:c.719G>A | ENSP00000450445.1:p.Arg240Gln |
| ENST00000557771.5:c.719G>A | ENSP00000451219.1:p.Arg240Gln |
| XM_011536983.1:c.767G>A | XP_011535285.1:p.Arg256Gln |