Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.45396508C>T , CM000667.2:g.45396508C>T | GRCh38 |
| NC_000005.9:g.45396610C>T , CM000667.1:g.45396610C>T | GRCh37 |
| NC_000005.8:g.45432367C>T | NCBI36 |
| NG_042183.1:g.304611G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021072.4:c.1214G>A MANE Select | NP_066550.2:p.Arg405Gln |
| ENST00000303230.6:c.1214G>A MANE Select | ENSP00000307342.4:p.Arg405Gln |
| NM_021072.3:c.1214G>A | NP_066550.2:p.Arg405Gln |
| ENST00000303230.5:c.1214G>A | ENSP00000307342.4:p.Arg405Gln |
| ENST00000637305.1:n.377G>A | |
| ENST00000673735.1:c.1214G>A | ENSP00000501107.1:p.Arg405Gln |