Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94005442T>G , CM000663.2:g.94005442T>G | GRCh38 |
| NC_000001.10:g.94470998T>G , CM000663.1:g.94470998T>G | GRCh37 |
| NC_000001.9:g.94243586T>G | NCBI36 |
| NG_009073.1:g.120708A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.6146A>C MANE Select | NP_000341.2:p.Lys2049Thr |
| ENST00000370225.4:c.6146A>C MANE Select | ENSP00000359245.3:p.Lys2049Thr |
| NM_000350.2:c.6146A>C | NP_000341.2:p.Lys2049Thr |
| ENST00000370225.3:c.6146A>C | ENSP00000359245.3:p.Lys2049Thr |
| ENST00000465352.1:n.562A>C | |
| ENST00000484388.1:n.260A>C | |
| ENST00000536513.5:c.2522A>C | ENSP00000439707.2:p.Lys841Thr |