Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19955889T>G , CM000670.2:g.19955889T>G | GRCh38 |
| NC_000008.10:g.19813400T>G , CM000670.1:g.19813400T>G | GRCh37 |
| NC_000008.9:g.19857680T>G | NCBI36 |
| NG_008855.1:g.21819T>G | |
| NG_008855.2:g.59173T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.824T>G MANE Select | ENSP00000497642.1:p.Phe275Cys | |
| ENST00000311322.8:c.824T>G | ENSP00000309757.6:p.Phe275Cys | |
| NM_000237.2:c.824T>G | NP_000228.1:p.Phe275Cys | |
| NM_000237.3:c.824T>G MANE Select | NP_000228.1:p.Phe275Cys |