Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951932T>G , CM000670.2:g.19951932T>G | GRCh38 |
| NC_000008.10:g.19809443T>G , CM000670.1:g.19809443T>G | GRCh37 |
| NC_000008.9:g.19853723T>G | NCBI36 |
| NG_008855.1:g.17862T>G | |
| NG_008855.2:g.55216T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.413T>G MANE Select | ENSP00000497642.1:p.Phe138Cys | |
| ENST00000311322.8:c.413T>G | ENSP00000309757.6:p.Phe138Cys | |
| ENST00000520959.5:c.185T>G | ENSP00000428496.1:p.Phe62Cys | |
| NM_000237.2:c.413T>G | NP_000228.1:p.Phe138Cys | |
| NM_000237.3:c.413T>G MANE Select | NP_000228.1:p.Phe138Cys |