Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40170082G>A , CM000677.2:g.40170082G>A | GRCh38 |
| NC_000015.9:g.40462283G>A , CM000677.1:g.40462283G>A | GRCh37 |
| NC_000015.8:g.38249575G>A | NCBI36 |
| NG_016338.1:g.14074G>A , LRG_489:g.14074G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001211.6:c.200G>A MANE Select | NP_001202.5:p.Arg67Gln |
| ENST00000287598.11:c.200G>A MANE Select | ENSP00000287598.7:p.Arg67Gln |
| NM_001211.5:c.200G>A , LRG_489t1:c.200G>A | NP_001202.4:p.Arg67Gln |
| ENST00000287598.10:c.200G>A | ENSP00000287598.6:p.Arg67Gln |
| ENST00000412359.7:c.200G>A | ENSP00000398470.3:p.Arg67Gln |
| ENST00000558715.5:c.*33G>A | ENSP00000453861.1:n.*33G>A |
| ENST00000559414.5:n.378G>A | |
| ENST00000560120.5:n.254G>A |