HGVS | Genome Assembly |
---|---|
NC_000006.12:g.50845193G>A , CM000668.2:g.50845193G>A | GRCh38 |
NC_000006.11:g.50812906G>A , CM000668.1:g.50812906G>A | GRCh37 |
NC_000006.10:g.50920865G>A | NCBI36 |
NG_008438.1:g.31468G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000393655.4:c.*1801G>A MANE Select | ENSP00000377265.2:n.*1801G>A | |
ENST00000393655.3:c.*1801G>A | ENSP00000377265.2:n.*1801G>A | |
NM_003221.3:c.*1801G>A | NP_003212.2:n.*1801G>A | |
XM_006715176.2:c.*740G>A | XP_006715239.1:n.*740G>A | |
XM_006715177.2:c.*740G>A | XP_006715240.1:n.*740G>A | |
XM_011514834.1:c.*740G>A | XP_011513136.1:n.*740G>A | |
XM_011514835.1:c.*740G>A | XP_011513137.1:n.*740G>A | |
XM_011514836.1:c.*2-508G>A | XP_011513138.1:n.*2-508G>A | |
XM_011514837.1:c.*1801G>A | XP_011513139.1:n.*1801G>A | |
XM_011514837.2:c.*1801G>A | XP_011513139.1:n.*1801G>A | |
XM_017011233.1:c.*1801G>A | XP_016866722.1:n.*1801G>A | |
XM_017011234.1:c.*1801G>A | XP_016866723.1:n.*1801G>A | |
XM_017011235.2:c.*1801G>A | XP_016866724.1:n.*1801G>A | |
NM_003221.4:c.*1801G>A MANE Select | NP_003212.2:n.*1801G>A |