Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43946276G>A , CM000684.2:g.43946276G>A | GRCh38 |
| NC_000022.10:g.44342156G>A , CM000684.1:g.44342156G>A | GRCh37 |
| NC_000022.9:g.42673489G>A | NCBI36 |
| NG_008631.1:g.27538G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025225.3:c.1340G>A MANE Select | NP_079501.2:p.Arg447Gln |
| ENST00000216180.8:c.1340G>A MANE Select | ENSP00000216180.3:p.Arg447Gln |
| NM_025225.2:c.1340G>A | NP_079501.2:p.Arg447Gln |
| ENST00000216180.7:c.1340G>A | ENSP00000216180.3:p.Arg447Gln |
| ENST00000406117.6:c.*849+1481G>A | ENSP00000384668.2:n.*849+1481G>A |
| ENST00000423180.2:c.1328G>A | ENSP00000397987.2:p.Arg443Gln |