Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44289744G>A , CM000683.2:g.44289744G>A | GRCh38 |
| NC_000021.8:g.45709627G>A , CM000683.1:g.45709627G>A | GRCh37 |
| NC_000021.7:g.44534055G>A | NCBI36 |
| NG_009556.1:g.8865G>A , LRG_18:g.8865G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000383.4:c.740G>A MANE Select | NP_000374.1:p.Arg247His |
| ENST00000291582.6:c.740G>A MANE Select | ENSP00000291582.5:p.Arg247His |
| NM_000383.3:c.740G>A | NP_000374.1:p.Arg247His |
| ENST00000291582.5:c.740G>A | ENSP00000291582.5:p.Arg247His |
| ENST00000527919.5:n.1473G>A | |
| ENST00000530812.5:n.2490G>A | |
| XM_011529551.1:c.740G>A | XP_011527853.1:p.Arg247His |