Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136056760G>A , CM000667.2:g.136056760G>A | GRCh38 |
| NC_000005.9:g.135392449G>A , CM000667.1:g.135392449G>A | GRCh37 |
| NC_000005.8:g.135420348G>A | NCBI36 |
| NG_012646.1:g.32866G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000358.3:c.1643G>A MANE Select | NP_000349.1:p.Arg548Gln |
| ENST00000442011.7:c.1643G>A MANE Select | ENSP00000416330.2:p.Arg548Gln |
| NM_000358.2:c.1643G>A | NP_000349.1:p.Arg548Gln |
| ENST00000442011.6:c.1643G>A | ENSP00000416330.2:p.Arg548Gln |
| ENST00000506699.5:n.2160G>A | |
| ENST00000507018.5:c.1621G>A | |
| ENST00000509485.5:c.640G>A | |
| ENST00000514242.5:n.414G>A | |
| ENST00000514554.5:c.795G>A |