HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3154821C>A , CM000668.2:g.3154821C>A | GRCh38 |
NC_000006.11:g.3155055C>A , CM000668.1:g.3155055C>A | GRCh37 |
NC_000006.10:g.3100054C>A | NCBI36 |
NG_042223.1:g.7729G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333628.4:c.380G>T MANE Select | ENSP00000369703.2:p.Cys127Phe | |
ENST00000679400.1:n.436G>T | ||
ENST00000679907.1:n.768G>T | ||
ENST00000680036.1:n.1162G>T | ||
ENST00000680967.1:n.1470G>T | ||
ENST00000333628.3:c.380G>T | ENSP00000369703.2:p.Cys127Phe | |
ENST00000489942.1:n.575G>T | ||
NM_001069.2:c.380G>T | NP_001060.1:p.Cys127Phe | |
NM_001310315.1:c.125G>T | NP_001297244.1:p.Cys42Phe | |
NM_001069.3:c.380G>T MANE Select | NP_001060.1:p.Cys127Phe | |
NM_001310315.2:c.125G>T | NP_001297244.1:p.Cys42Phe |