Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46380281G>A , CM000664.2:g.46380281G>A | GRCh38 |
| NC_000002.11:g.46607420G>A , CM000664.1:g.46607420G>A | GRCh37 |
| NC_000002.10:g.46460924G>A | NCBI36 |
| NG_016000.1:g.87880G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001430.5:c.1609G>A MANE Select | NP_001421.2:p.Gly537Arg |
| ENST00000263734.5:c.1609G>A MANE Select | ENSP00000263734.3:p.Gly537Arg |
| NM_001430.4:c.1609G>A | NP_001421.2:p.Gly537Arg |
| ENST00000263734.4:c.1609G>A | ENSP00000263734.3:p.Gly537Arg |
| ENST00000466465.5:n.582G>A | |
| XM_011532698.1:c.1648G>A | XP_011531000.1:p.Gly550Arg |
| XM_011532698.2:c.1648G>A | XP_011531000.1:p.Gly550Arg |