HGVS | Genome Assembly |
---|---|
NC_000011.10:g.1075716T>G , CM000673.2:g.1075716T>G | GRCh38 |
NC_000011.9:g.1075716T>G , CM000673.1:g.1075716T>G | GRCh37 |
NC_000011.8:g.1065716T>G | NCBI36 |
NG_051929.1:g.5842T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361558.7:n.169T>G | ||
ENST00000675028.1:c.142T>G | ENSP00000502432.1:p.Phe48Val | |
NM_002457.3:c.142T>G | NP_002448.3:p.Phe48Val | |
NM_002457.4:c.142T>G | NP_002448.4:p.Phe48Val |