HGVS | Genome Assembly |
---|---|
NC_000016.10:g.84909032T>A , CM000678.2:g.84909032T>A | GRCh38 |
NC_000016.9:g.84942638T>A , CM000678.1:g.84942638T>A | GRCh37 |
NC_000016.8:g.83500139T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262424.10:c.*2390T>A MANE Select | ENSP00000262424.5:n.*2390T>A | |
ENST00000262424.9:c.*2390T>A | ENSP00000262424.5:n.*2390T>A | |
ENST00000566165.1:c.121-10608T>A | ||
NM_031476.3:c.*2390T>A | NP_113664.1:n.*2390T>A | |
XM_005256190.1:c.*2390T>A | XP_005256247.1:n.*2390T>A | |
NM_031476.4:c.*2390T>A MANE Select | NP_113664.1:n.*2390T>A |