HGVS | Genome Assembly |
---|---|
NC_000003.12:g.37475876G>A , CM000665.2:g.37475876G>A | GRCh38 |
NC_000003.11:g.37517367G>A , CM000665.1:g.37517367G>A | GRCh37 |
NC_000003.10:g.37492371G>A | NCBI36 |
NG_016166.1:g.28555G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264741.10:c.420+2416G>A MANE Select | ENSP00000264741.5:n.420+2416G>A | |
ENST00000264741.9:c.420+2416G>A | ENSP00000264741.5:n.420+2416G>A | |
ENST00000422441.5:c.420+2416G>A | ENSP00000397258.1:n.420+2416G>A | |
NM_002207.2:c.420+2416G>A | NP_002198.2:n.420+2416G>A | |
NM_002207.3:c.420+2416G>A MANE Select | NP_002198.2:n.420+2416G>A |