Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2422947A>T , CM000673.2:g.2422947A>T | GRCh38 |
| NC_000011.9:g.2444177A>T , CM000673.1:g.2444177A>T | GRCh37 |
| NC_000011.8:g.2400753A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696290.1:c.90T>A MANE Select | ENSP00000512529.1:p.Phe30Leu | |
| ENST00000155858.10:c.90T>A | ENSP00000155858.5:p.Phe30Leu | |
| ENST00000528453.1:c.90T>A | ENSP00000436809.1:p.Phe30Leu | |
| ENST00000533060.5:c.90T>A | ENSP00000434121.1:p.Phe30Leu | |
| ENST00000533881.5:c.66T>A | ENSP00000434383.1:p.Phe22Leu | |
| NM_014555.3:c.90T>A | NP_055370.1:p.Phe30Leu | |
| XM_011520035.1:c.351T>A | XP_011518337.1:p.Phe117Leu | |
| XM_017017628.1:c.144T>A | XP_016873117.1:p.Phe48Leu | |
| NM_014555.4:c.90T>A MANE Select | NP_055370.1:p.Phe30Leu |