Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190388362C>A , CM000665.2:g.190388362C>A | GRCh38 |
| NC_000003.11:g.190106151C>A , CM000665.1:g.190106151C>A | GRCh37 |
| NC_000003.10:g.191588845C>A | NCBI36 |
| NG_008149.1:g.5311C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.33C>A MANE Select | ENSP00000264734.3:p.Phe11Leu | |
| ENST00000456423.2:c.33C>A | ENSP00000414136.2:p.Phe11Leu | |
| ENST00000264734.2:c.243C>A | ENSP00000264734.2:p.Phe81Leu | |
| ENST00000456423.1:c.243C>A | ENSP00000414136.1:p.Phe81Leu | |
| ENST00000468220.1:n.306+13759C>A | ||
| NM_006580.3:c.243C>A | NP_006571.1:p.Phe81Leu | |
| NM_001378492.1:c.33C>A | NP_001365421.1:p.Phe11Leu | |
| NM_001378493.1:c.33C>A | NP_001365422.1:p.Phe11Leu | |
| NM_006580.4:c.33C>A MANE Select | NP_006571.2:p.Phe11Leu |