Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177434392A>C , CM000666.2:g.177434392A>C | GRCh38 |
| NC_000004.11:g.178355546A>C , CM000666.1:g.178355546A>C | GRCh37 |
| NC_000004.10:g.178592540A>C | NCBI36 |
| NG_011845.2:g.13112T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.796T>G MANE Select | ENSP00000264595.2:p.Phe266Val | |
| ENST00000264595.6:c.796T>G | ENSP00000264595.2:p.Phe266Val | |
| ENST00000502310.5:c.367T>G | ENSP00000423798.1:p.Phe123Val | |
| ENST00000506853.5:n.754T>G | ||
| NM_000027.3:c.796T>G | NP_000018.2:p.Phe266Val | |
| NM_001171988.1:c.766T>G | NP_001165459.1:p.Phe256Val | |
| NR_033655.1:n.848T>G | ||
| XR_001741155.2:n.868T>G | ||
| NM_000027.4:c.796T>G MANE Select | NP_000018.2:p.Phe266Val | |
| NM_001171988.2:c.766T>G | NP_001165459.1:p.Phe256Val | |
| NR_033655.2:n.782T>G |