Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48726850C>G , CM000679.2:g.48726850C>G | GRCh38 |
| NC_000017.10:g.46804212C>G , CM000679.1:g.46804212C>G | GRCh37 |
| NC_000017.9:g.44159211C>G | NCBI36 |
| NG_033789.1:g.6900G>C , LRG_771:g.6900G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290295.8:c.795G>C MANE Select | ENSP00000290295.8:p.Gln265His | |
| ENST00000290295.7:c.795G>C | ENSP00000290295.7:p.Gln265His | |
| NM_006361.5:c.795G>C , LRG_771t1:c.795G>C | NP_006352.2:p.Gln265His | |
| NM_006361.6:c.795G>C MANE Select | NP_006352.2:p.Gln265His |