Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59359108A>C , CM000680.2:g.59359108A>C | GRCh38 |
| NC_000018.9:g.57026340A>C , CM000680.1:g.57026340A>C | GRCh37 |
| NC_000018.8:g.55177320A>C | NCBI36 |
| NG_012097.1:g.5169T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251047.6:c.137T>G MANE Select | ENSP00000251047.4:p.Phe46Cys | |
| ENST00000251047.5:c.137T>G | ENSP00000251047.4:p.Phe46Cys | |
| ENST00000587561.1:n.158T>G | ||
| NM_005570.3:c.137T>G | NP_005561.1:p.Phe46Cys | |
| NM_005570.4:c.137T>G MANE Select | NP_005561.1:p.Phe46Cys |