HGVS | Genome Assembly |
---|---|
NC_000007.14:g.30687161A>T , CM000669.2:g.30687161A>T | GRCh38 |
NC_000007.13:g.30726777A>T , CM000669.1:g.30726777A>T | GRCh37 |
NC_000007.12:g.30693302A>T | NCBI36 |
NG_029169.1:g.17943T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000341843.8:c.-166-546T>A | ENSP00000344304.4:n.-166-546T>A | |
ENST00000348438.8:c.184+2030T>A | ENSP00000340943.4:n.184+2030T>A | |
ENST00000423776.1:c.185-546T>A | ENSP00000416620.1:n.185-546T>A | |
ENST00000445981.5:c.184+2030T>A | ENSP00000401241.1:n.184+2030T>A | |
ENST00000452278.5:c.185-546T>A | ENSP00000401930.1:n.185-546T>A | |
ENST00000462882.1:n.476-546T>A | ||
NM_001202475.1:c.184+2030T>A | NP_001189404.1:n.184+2030T>A | |
NM_001202481.1:c.-166-546T>A | NP_001189410.1:n.-166-546T>A | |
XM_017011752.2:c.-712T>A | XP_016867241.1:n.-712T>A | |
XM_024446665.1:c.-825T>A | XP_024302433.1:n.-825T>A |