HGVS | Genome Assembly |
---|---|
NC_000003.12:g.133948892C>T , CM000665.2:g.133948892C>T | GRCh38 |
NC_000003.11:g.133667736C>T , CM000665.1:g.133667736C>T | GRCh37 |
NC_000003.10:g.135150426C>T | NCBI36 |
NG_031964.2:g.108293G>A | |
NG_031964.3:g.108293G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000310926.11:c.940+1G>A MANE Select | ENSP00000311291.4:n.940+1G>A | |
ENST00000310926.8:c.940+1G>A | ENSP00000311291.4:n.940+1G>A | |
ENST00000462770.5:n.521-192G>A | ||
ENST00000477061.1:n.324+1G>A | ||
ENST00000481359.3:c.940+1G>A | ENSP00000420028.3:n.940+1G>A | |
ENST00000493729.5:c.712+1G>A | ENSP00000418893.1:n.712+1G>A | |
NM_005630.2:c.940+1G>A | NP_005621.2:n.940+1G>A | |
XM_011513090.1:c.940+1G>A | XP_011511392.1:n.940+1G>A | |
XM_017007077.1:c.436+1G>A | XP_016862566.1:n.436+1G>A | |
XM_024453721.1:c.940+1G>A | XP_024309489.1:n.940+1G>A | |
NM_005630.3:c.940+1G>A MANE Select | NP_005621.2:n.940+1G>A |