Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154772C= , CM000668.2:g.3154772C= | GRCh38 |
| NC_000006.11:g.3155006C= , CM000668.1:g.3155006C= | GRCh37 |
| NC_000006.10:g.3100005C= | NCBI36 |
| NG_042223.1:g.7778G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.429G= MANE Select | ENSP00000369703.2:p.Thr143= | |
| ENST00000679400.1:n.485G= | ||
| ENST00000679907.1:n.817G= | ||
| ENST00000680036.1:n.1211G= | ||
| ENST00000680967.1:n.1519G= | ||
| ENST00000333628.3:c.429G= | ENSP00000369703.2:p.Thr143= | |
| ENST00000489942.1:n.624G= | ||
| NM_001069.2:c.429G= | NP_001060.1:p.Thr143= | |
| NM_001310315.1:c.174G= | NP_001297244.1:p.Thr58= | |
| NM_001069.3:c.429G= MANE Select | NP_001060.1:p.Thr143= | |
| NM_001310315.2:c.174G= | NP_001297244.1:p.Thr58= |