Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46001341C>A , CM000683.2:g.46001341C>A | GRCh38 |
| NC_000021.8:g.47421255C>A , CM000683.1:g.47421255C>A | GRCh37 |
| NC_000021.7:g.46245683C>A | NCBI36 |
| NG_008674.1:g.24593C>A , LRG_475:g.24593C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.310C>A | ||
| ENST00000612273.2:c.37C>A | ||
| ENST00000682634.1:c.37C>A | ||
| ENST00000361866.8:c.1911C>A MANE Select | ENSP00000355180.3:p.Phe637Leu | |
| ENST00000361866.7:c.1911C>A | ENSP00000355180.3:p.Phe637Leu | |
| ENST00000463060.5:n.310C>A | ||
| ENST00000498614.5:n.145C>A | ||
| ENST00000612273.1:c.1905C>A | ENSP00000483630.1:p.Phe635Leu | |
| NM_001848.2:c.1911C>A , LRG_475t1:c.1911C>A | NP_001839.2:p.Phe637Leu | |
| NM_001848.3:c.1911C>A MANE Select | NP_001839.2:p.Phe637Leu |