Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75758083G>A , CM000679.2:g.75758083G>A | GRCh38 |
| NC_000017.10:g.73754164G>A , CM000679.1:g.73754164G>A | GRCh37 |
| NC_000017.9:g.71265759G>A | NCBI36 |
| NG_007372.1:g.41649G>A | |
| NG_008079.1:g.12117C>T | |
| NG_008079.2:g.12117C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000154.2:c.1152C>T MANE Select | NP_000145.1:p.Ala384= |
| ENST00000588479.6:c.1152C>T MANE Select | ENSP00000465930.1:p.Ala384= |
| NM_000154.1:c.1152C>T | NP_000145.1:p.Ala384= |
| NM_001381985.1:c.1152C>T | NP_001368914.1:p.Ala384= |
| ENST00000225614.6:c.1152C>T | ENSP00000225614.1:p.Ala384= |
| ENST00000586733.1:n.354C>T | |
| ENST00000588479.5:c.1152C>T | ENSP00000465930.1:p.Ala384= |
| ENST00000589643.1:n.205C>T | |
| ENST00000592997.5:c.528C>T | ENSP00000464765.1:p.Ala176= |
| ENST00000592997.6:c.1062C>T | ENSP00000464765.2:p.Ala354= |