Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.9117899T>G , CM000680.2:g.9117899T>G | GRCh38 |
| NC_000018.9:g.9117897T>G , CM000680.1:g.9117897T>G | GRCh37 |
| NC_000018.8:g.9107897T>G | NCBI36 |
| NG_013355.1:g.20270T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318388.11:c.116T>G MANE Select | ENSP00000327268.6:p.Phe39Cys | |
| ENST00000318388.10:c.116T>G | ENSP00000327268.6:p.Phe39Cys | |
| ENST00000400033.1:c.125T>G | ENSP00000382908.1:p.Phe42Cys | |
| ENST00000474350.5:n.513T>G | ||
| ENST00000483511.1:n.175T>G | ||
| ENST00000583375.5:n.207T>G | ||
| NM_021074.4:c.116T>G | NP_066552.2:p.Phe39Cys | |
| XR_243808.1:n.218T>G | ||
| XM_017025782.1:c.29T>G | XP_016881271.1:p.Phe10Cys | |
| XR_002958175.1:n.218T>G | ||
| XR_243808.3:n.133T>G | ||
| NM_021074.5:c.116T>G MANE Select | NP_066552.2:p.Phe39Cys |