HGVS | Genome Assembly |
---|---|
NC_000017.11:g.43755765T>A , CM000679.2:g.43755765T>A | GRCh38 |
NC_000017.10:g.41833133T>A , CM000679.1:g.41833133T>A | GRCh37 |
NC_000017.9:g.39188659T>A | NCBI36 |
NG_008078.2:g.8024A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301691.3:c.221-2A>T MANE Select | ENSP00000301691.1:n.221-2A>T | |
ENST00000301691.2:c.221-2A>T | ENSP00000301691.1:n.221-2A>T | |
NM_025237.2:c.221-2A>T | NP_079513.1:n.221-2A>T | |
NM_025237.3:c.221-2A>T MANE Select | NP_079513.1:n.221-2A>T |