HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7933919T>A , CM000681.2:g.7933919T>A | GRCh38 |
NC_000019.9:g.7998804T>A , CM000681.1:g.7998804T>A | GRCh37 |
NC_000019.8:g.7904804T>A | NCBI36 |
NG_051180.1:g.14905A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270538.8:c.628A>T MANE Select | ENSP00000270538.2:p.Arg210Ter | |
ENST00000270538.7:c.628A>T | ENSP00000270538.2:p.Arg210Ter | |
ENST00000595831.5:c.615A>T | ||
ENST00000595876.5:c.*316A>T | ENSP00000471596.1:n.*316A>T | |
ENST00000597926.1:c.532A>T | ENSP00000469389.1:p.Arg178Ter | |
ENST00000598675.1:n.34A>T | ||
ENST00000600748.5:n.613A>T | ||
NM_006351.3:c.628A>T | NP_006342.2:p.Arg210Ter | |
NM_006351.4:c.628A>T MANE Select | NP_006342.2:p.Arg210Ter |