Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48728471C>A , CM000679.2:g.48728471C>A | GRCh38 |
| NC_000017.10:g.46805833C>A , CM000679.1:g.46805833C>A | GRCh37 |
| NC_000017.9:g.44160832C>A | NCBI36 |
| NG_033789.1:g.5279G>T , LRG_771:g.5279G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006361.6:c.123G>T MANE Select | NP_006352.2:p.Thr41= |
| ENST00000290295.8:c.123G>T MANE Select | ENSP00000290295.8:p.Thr41= |
| NM_006361.5:c.123G>T , LRG_771t1:c.123G>T | NP_006352.2:p.Thr41= |
| ENST00000290295.7:c.123G>T | ENSP00000290295.7:p.Thr41= |