HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3154599G>A , CM000668.2:g.3154599G>A | GRCh38 |
NC_000006.11:g.3154833G>A , CM000668.1:g.3154833G>A | GRCh37 |
NC_000006.10:g.3099832G>A | NCBI36 |
NG_042223.1:g.7951C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333628.4:c.602C>T MANE Select | ENSP00000369703.2:p.Ser201Phe | |
ENST00000679400.1:n.658C>T | ||
ENST00000679907.1:n.990C>T | ||
ENST00000680036.1:n.1384C>T | ||
ENST00000680967.1:n.1692C>T | ||
ENST00000333628.3:c.602C>T | ENSP00000369703.2:p.Ser201Phe | |
ENST00000489942.1:n.797C>T | ||
NM_001069.2:c.602C>T | NP_001060.1:p.Ser201Phe | |
NM_001310315.1:c.347C>T | NP_001297244.1:p.Ser116Phe | |
NM_001069.3:c.602C>T MANE Select | NP_001060.1:p.Ser201Phe | |
NM_001310315.2:c.347C>T | NP_001297244.1:p.Ser116Phe |