Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6110480G>T , CM000682.2:g.6110480G>T | GRCh38 |
| NC_000020.10:g.6091127G>T , CM000682.1:g.6091127G>T | GRCh37 |
| NC_000020.9:g.6039127G>T | NCBI36 |
| NG_016213.1:g.18065C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017671.5:c.564C>A MANE Select | NP_060141.3:p.Thr188= |
| ENST00000217289.9:c.564C>A MANE Select | ENSP00000217289.4:p.Thr188= |
| NM_017671.4:c.564C>A | NP_060141.3:p.Thr188= |
| ENST00000217289.8:c.564C>A | ENSP00000217289.4:p.Thr188= |
| ENST00000536936.1:c.-26+1997C>A | ENSP00000441063.1:n.-26+1997C>A |
| ENST00000699095.1:c.564C>A | ENSP00000514127.1:p.Thr188= |
| ENST00000699096.1:n.1026C>A | |
| ENST00000699098.1:c.564C>A | ENSP00000514312.1:p.Thr188= |
| XM_024451935.1:c.564C>A | XP_024307703.1:p.Thr188= |