Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81646428A>T , CM000665.2:g.81646428A>T | GRCh38 |
| NC_000003.11:g.81695579A>T , CM000665.1:g.81695579A>T | GRCh37 |
| NC_000003.10:g.81778269A>T | NCBI36 |
| NG_011810.1:g.120373T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.746T>A MANE Select | ENSP00000410833.2:p.Phe249Tyr | |
| ENST00000429644.6:c.746T>A | ENSP00000410833.2:p.Phe249Tyr | |
| ENST00000489715.1:c.623T>A | ENSP00000419638.1:p.Phe208Tyr | |
| ENST00000498468.1:n.296T>A | ||
| NM_000158.3:c.746T>A | NP_000149.3:p.Phe249Tyr | |
| NM_000158.4:c.746T>A MANE Select | NP_000149.4:p.Phe249Tyr |