Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218812604C>A , CM000664.2:g.218812604C>A | GRCh38 |
| NC_000002.11:g.219677327C>A , CM000664.1:g.219677327C>A | GRCh37 |
| NC_000002.10:g.219385571C>A | NCBI36 |
| NG_007959.1:g.35856C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000784.4:c.699C>A MANE Select | NP_000775.1:p.Ile233= |
| ENST00000258415.9:c.699C>A MANE Select | ENSP00000258415.4:p.Ile233= |
| NM_000784.3:c.699C>A | NP_000775.1:p.Ile233= |
| ENST00000258415.8:c.699C>A | ENSP00000258415.4:p.Ile233= |
| ENST00000411688.1:c.417C>A | ENSP00000392671.1:p.Ile139= |
| ENST00000445971.1:c.*160C>A | ENSP00000404945.1:n.*160C>A |
| ENST00000466602.1:n.647C>A | |
| ENST00000494263.5:n.1133C>A | |
| XM_017003488.2:c.279C>A | XP_016858977.1:p.Ile93= |