Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48726919G>C , CM000679.2:g.48726919G>C | GRCh38 |
| NC_000017.10:g.46804281G>C , CM000679.1:g.46804281G>C | GRCh37 |
| NC_000017.9:g.44159280G>C | NCBI36 |
| NG_033789.1:g.6831C>G , LRG_771:g.6831C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006361.6:c.726C>G MANE Select | NP_006352.2:p.Thr242= |
| ENST00000290295.8:c.726C>G MANE Select | ENSP00000290295.8:p.Thr242= |
| NM_006361.5:c.726C>G , LRG_771t1:c.726C>G | NP_006352.2:p.Thr242= |
| ENST00000290295.7:c.726C>G | ENSP00000290295.7:p.Thr242= |