HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169552778A>T , CM000663.2:g.169552778A>T | GRCh38 |
NC_000001.10:g.169522016A>T , CM000663.1:g.169522016A>T | GRCh37 |
NC_000001.9:g.167788640A>T | NCBI36 |
NG_011806.1:g.38754T>A , LRG_553:g.38754T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367797.9:c.1119-44T>A MANE Select | ENSP00000356771.3:n.1119-44T>A | |
ENST00000367796.3:c.1119-44T>A | ENSP00000356770.3:n.1119-44T>A | |
ENST00000367797.7:c.1119-44T>A | ENSP00000356771.3:n.1119-44T>A | |
NM_000130.4:c.1119-44T>A , LRG_553t1:c.1119-44T>A | NP_000121.2:n.1119-44T>A | |
XM_017000660.2:c.708-44T>A | XP_016856149.1:n.708-44T>A | |
NM_000130.5:c.1119-44T>A MANE Select | NP_000121.2:n.1119-44T>A |