Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218809730C>A , CM000664.2:g.218809730C>A | GRCh38 |
| NC_000002.11:g.219674453C>A , CM000664.1:g.219674453C>A | GRCh37 |
| NC_000002.10:g.219382697C>A | NCBI36 |
| NG_007959.1:g.32982C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000784.4:c.409C>A MANE Select | NP_000775.1:p.Arg137= |
| ENST00000258415.9:c.409C>A MANE Select | ENSP00000258415.4:p.Arg137= |
| NM_000784.3:c.409C>A | NP_000775.1:p.Arg137= |
| ENST00000258415.8:c.409C>A | ENSP00000258415.4:p.Arg137= |
| ENST00000411688.1:c.127C>A | ENSP00000392671.1:p.Arg43= |
| ENST00000445971.1:c.256-2492C>A | ENSP00000404945.1:n.256-2492C>A |
| ENST00000466602.1:n.265-2492C>A | |
| ENST00000494263.5:n.843C>A | |
| XM_017003488.2:c.27-2492C>A | XP_016858977.1:n.27-2492C>A |