HGVS | Genome Assembly |
---|---|
NC_000011.10:g.55812003T>A , CM000673.2:g.55812003T>A | GRCh38 |
NC_000011.9:g.55579479T>A , CM000673.1:g.55579479T>A | GRCh37 |
NC_000011.8:g.55336055T>A | NCBI36 |
NG_052620.1:g.5637T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000625203.2:c.537T>A MANE Select | ENSP00000485319.1:p.Cys179Ter | |
ENST00000333973.3:c.537T>A | ENSP00000335529.2:p.Cys179Ter | |
ENST00000623450.1:c.537T>A | ENSP00000485509.1:p.Cys179Ter | |
ENST00000625203.1:c.537T>A | ENSP00000485319.1:p.Cys179Ter | |
NM_001004738.1:c.537T>A | NP_001004738.1:p.Cys179Ter | |
NM_001004738.2:c.537T>A MANE Select | NP_001004738.1:p.Cys179Ter |