Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45117276G>C , CM000677.2:g.45117276G>C | GRCh38 |
| NC_000015.9:g.45409474G>C , CM000677.1:g.45409474G>C | GRCh37 |
| NC_000015.8:g.43196766G>C | NCBI36 |
| NG_009447.1:g.1886C>G | |
| NG_016992.1:g.7952G>C | |
| NG_033105.1:g.17602C>G | |
| NG_033105.2:g.17602C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323030.6:c.740G>C MANE Select | ENSP00000319705.5:p.Gly247Ala | |
| ENST00000323030.5:c.740G>C | ENSP00000319705.5:p.Gly247Ala | |
| ENST00000350243.10:n.1381G>C | ||
| ENST00000491993.2:c.*807G>C | ENSP00000454110.1:n.*807G>C | |
| NM_207581.3:c.740G>C | NP_997464.2:p.Gly247Ala | |
| XM_017022180.1:c.791G>C | XP_016877669.1:p.Gly264Ala | |
| NM_207581.4:c.740G>C MANE Select | NP_997464.2:p.Gly247Ala |