Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028793A>C , CM000666.2:g.52028793A>C | GRCh38 |
| NC_000004.11:g.52894959A>C , CM000666.1:g.52894959A>C | GRCh37 |
| NC_000004.10:g.52589716A>C | NCBI36 |
| NG_008891.1:g.14527T>G , LRG_204:g.14527T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000232.5:c.558T>G MANE Select | NP_000223.1:p.Thr186= |
| ENST00000381431.10:c.558T>G MANE Select | ENSP00000370839.6:p.Thr186= |
| NM_000232.4:c.558T>G , LRG_204t1:c.558T>G | NP_000223.1:p.Thr186= |
| ENST00000381431.9:c.558T>G | ENSP00000370839.5:p.Thr186= |
| ENST00000506357.5:c.641T>G | |
| XM_006714049.2:c.261T>G | XP_006714112.1:p.Thr87= |
| XM_011534403.1:c.348T>G | XP_011532705.1:p.Thr116= |
| XM_011534404.1:c.261T>G | XP_011532706.1:p.Thr87= |