HGVS | Genome Assembly |
---|---|
NC_000016.10:g.56609264C>A , CM000678.2:g.56609264C>A | GRCh38 |
NC_000016.9:g.56643176C>A , CM000678.1:g.56643176C>A | GRCh37 |
NC_000016.8:g.55200677C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000245185.6:c.96C>A MANE Select | ENSP00000245185.5:p.Ser32Arg | |
ENST00000245185.5:c.96C>A | ENSP00000245185.5:p.Ser32Arg | |
ENST00000561491.1:c.*79C>A | ENSP00000456804.1:n.*79C>A | |
ENST00000562017.1:n.670C>A | ||
ENST00000563985.1:n.476C>A | ||
ENST00000567300.1:n.183C>A | ||
NM_005953.3:c.96C>A | NP_005944.1:p.Ser32Arg | |
NM_005953.4:c.96C>A | NP_005944.1:p.Ser32Arg | |
NM_005953.5:c.96C>A MANE Select | NP_005944.1:p.Ser32Arg |