Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.161420242G>A , CM000664.2:g.161420242G>A | GRCh38 |
| NC_000002.11:g.162276753G>A , CM000664.1:g.162276753G>A | GRCh37 |
| NC_000002.10:g.161984999G>A | NCBI36 |
| NG_046904.1:g.9134G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006593.4:c.1175G>A MANE Select | NP_006584.1:p.Arg392Gln |
| ENST00000389554.8:c.1175G>A MANE Select | ENSP00000374205.3:p.Arg392Gln |
| NM_006593.2:c.1175G>A | NP_006584.1:p.Arg392Gln |
| NM_006593.3:c.1175G>A | NP_006584.1:p.Arg392Gln |
| ENST00000389554.7:c.1175G>A | ENSP00000374205.3:p.Arg392Gln |
| ENST00000410035.1:c.314G>A | ENSP00000387023.1:p.Arg105Gln |
| ENST00000411412.5:c.380G>A | ENSP00000393934.1:p.Arg127Gln |
| ENST00000463544.1:n.3542G>A | |
| ENST00000477804.5:n.129G>A | |
| ENST00000489530.1:n.456G>A |