HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67436055T>A , CM000678.2:g.67436055T>A | GRCh38 |
NC_000016.9:g.67469958T>A , CM000678.1:g.67469958T>A | GRCh37 |
NC_000016.8:g.66027459T>A | NCBI36 |
NG_011482.1:g.50132A>T | |
NG_016549.1:g.9923T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000326152.6:c.577T>A MANE Select | ENSP00000316786.5:p.Phe193Ile | |
ENST00000326152.5:c.577T>A | ENSP00000316786.5:p.Phe193Ile | |
ENST00000566606.1:c.555T>A | ENSP00000473429.1:n.555T>A | |
ENST00000567684.2:n.440T>A | ||
NM_000196.3:c.577T>A | NP_000187.3:p.Phe193Ile | |
NM_000196.4:c.577T>A MANE Select | NP_000187.3:p.Phe193Ile |