HGVS | Genome Assembly |
---|---|
NC_000007.14:g.2525301C>A , CM000669.2:g.2525301C>A | GRCh38 |
NC_000007.13:g.2564935C>A , CM000669.1:g.2564935C>A | GRCh37 |
NC_000007.12:g.2531461C>A | NCBI36 |
NG_008109.2:g.17773C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222725.10:c.564C>A MANE Select | ENSP00000222725.5:p.Phe188Leu | |
ENST00000222725.9:c.564C>A | ENSP00000222725.5:p.Phe188Leu | |
ENST00000338732.7:c.177C>A | ENSP00000343095.3:p.Phe59Leu | |
ENST00000359574.7:c.564C>A | ENSP00000352579.3:p.Phe188Leu | |
ENST00000402045.5:c.177C>A | ENSP00000384786.1:p.Phe59Leu | |
ENST00000402506.5:c.351C>A | ENSP00000385764.1:p.Phe117Leu | |
ENST00000493850.1:n.250C>A | ||
ENST00000614382.1:c.171C>A | ENSP00000483986.1:p.Phe57Leu | |
NM_001040167.1:c.564C>A | NP_001035257.1:p.Phe188Leu | |
NM_001040168.1:c.564C>A | NP_001035258.1:p.Phe188Leu | |
NM_001166355.1:c.351C>A | NP_001159827.1:p.Phe117Leu | |
NM_002304.2:c.177C>A | NP_002295.1:p.Phe59Leu | |
NM_001040167.2:c.564C>A MANE Select | NP_001035257.1:p.Phe188Leu | |
NM_001040168.2:c.564C>A | NP_001035258.1:p.Phe188Leu | |
NM_001166355.2:c.351C>A | NP_001159827.1:p.Phe117Leu | |
NM_002304.3:c.177C>A | NP_002295.1:p.Phe59Leu |