Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154773G>C , CM000668.2:g.3154773G>C | GRCh38 |
| NC_000006.11:g.3155007G>C , CM000668.1:g.3155007G>C | GRCh37 |
| NC_000006.10:g.3100006G>C | NCBI36 |
| NG_042223.1:g.7777C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.428C>G MANE Select | ENSP00000369703.2:p.Thr143Arg | |
| ENST00000679400.1:n.484C>G | ||
| ENST00000679907.1:n.816C>G | ||
| ENST00000680036.1:n.1210C>G | ||
| ENST00000680967.1:n.1518C>G | ||
| ENST00000333628.3:c.428C>G | ENSP00000369703.2:p.Thr143Arg | |
| ENST00000489942.1:n.623C>G | ||
| NM_001069.2:c.428C>G | NP_001060.1:p.Thr143Arg | |
| NM_001310315.1:c.173C>G | NP_001297244.1:p.Thr58Arg | |
| NM_001069.3:c.428C>G MANE Select | NP_001060.1:p.Thr143Arg | |
| NM_001310315.2:c.173C>G | NP_001297244.1:p.Thr58Arg |