Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48726837T>C , CM000679.2:g.48726837T>C | GRCh38 |
| NC_000017.10:g.46804199T>C , CM000679.1:g.46804199T>C | GRCh37 |
| NC_000017.9:g.44159198T>C | NCBI36 |
| NG_033789.1:g.6913A>G , LRG_771:g.6913A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290295.8:c.808A>G MANE Select | ENSP00000290295.8:p.Lys270Glu | |
| ENST00000290295.7:c.808A>G | ENSP00000290295.7:p.Lys270Glu | |
| NM_006361.5:c.808A>G , LRG_771t1:c.808A>G | NP_006352.2:p.Lys270Glu | |
| NM_006361.6:c.808A>G MANE Select | NP_006352.2:p.Lys270Glu |