Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116830808T>G , CM000673.2:g.116830808T>G | GRCh38 |
| NC_000011.9:g.116701524T>G , CM000673.1:g.116701524T>G | GRCh37 |
| NC_000011.8:g.116206734T>G | NCBI36 |
| NG_008949.1:g.5901T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000040.3:c.91T>G MANE Select | NP_000031.1:p.Phe31Val |
| ENST00000227667.8:c.91T>G MANE Select | ENSP00000227667.2:p.Phe31Val |
| NM_000040.1:c.91T>G | NP_000031.1:p.Phe31Val |
| NM_000040.2:c.91T>G | NP_000031.1:p.Phe31Val |
| ENST00000227667.7:c.91T>G | ENSP00000227667.2:p.Phe31Val |
| ENST00000375345.3:c.145T>G | ENSP00000364494.1:p.Phe49Val |
| ENST00000433777.5:c.91T>G | ENSP00000410614.1:p.Phe31Val |
| ENST00000470144.1:n.123T>G | |
| ENST00000630701.1:c.145T>G | ENSP00000486182.1:p.Phe49Val |