Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94423078T>G , CM000669.2:g.94423078T>G | GRCh38 |
| NC_000007.13:g.94052390T>G , CM000669.1:g.94052390T>G | GRCh37 |
| NC_000007.12:g.93890326T>G | NCBI36 |
| NG_007405.1:g.33518T>G , LRG_2:g.33518T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2525T>G MANE Select | ENSP00000297268.6:p.Phe842Cys | |
| ENST00000297268.10:c.2525T>G | ENSP00000297268.6:p.Phe842Cys | |
| ENST00000481570.5:n.608T>G | ||
| ENST00000497316.5:n.922T>G | ||
| ENST00000620463.1:c.2519T>G | ENSP00000477719.1:p.Phe840Cys | |
| NM_000089.3:c.2525T>G , LRG_2t1:c.2525T>G | NP_000080.2:p.Phe842Cys | |
| NM_000089.4:c.2525T>G MANE Select | NP_000080.2:p.Phe842Cys |