Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.93218719C>G , CM000676.2:g.93218719C>G | GRCh38 |
| NC_000014.8:g.93685065C>G , CM000676.1:g.93685065C>G | GRCh37 |
| NC_000014.7:g.92754818C>G | NCBI36 |
| NG_051089.1:g.16664C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000013070.11:c.794C>G MANE Select | ENSP00000013070.6:p.Ser265Cys | |
| ENST00000013070.10:c.794C>G | ENSP00000013070.6:p.Ser265Cys | |
| ENST00000416753.5:c.566C>G | ENSP00000391706.2:p.Ser189Cys | |
| ENST00000553674.1:c.*495C>G | ENSP00000450470.1:n.*495C>G | |
| ENST00000553857.5:c.378+3438C>G | ||
| ENST00000555329.1:c.39C>G | ||
| NM_175748.3:c.794C>G | NP_786924.2:p.Ser265Cys | |
| NR_038150.1:n.896C>G | ||
| NM_175748.4:c.794C>G MANE Select | NP_786924.2:p.Ser265Cys | |
| NR_038150.2:n.696C>G |