HGVS | Genome Assembly |
---|---|
NC_000002.12:g.113117755C>A , CM000664.2:g.113117755C>A | GRCh38 |
NC_000002.11:g.113875332C>A , CM000664.1:g.113875332C>A | GRCh37 |
NC_000002.10:g.113591803C>A | NCBI36 |
NG_021240.1:g.4863C>A , LRG_188:g.4863C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409052.6:c.-272-2311C>A | ENSP00000387210.1:n.-272-2311C>A | |
ENST00000465812.6:n.775+90C>A | ||
ENST00000409052.5:c.-272-2311C>A | ENSP00000387210.1:n.-272-2311C>A | |
XM_011511121.1:c.-272-2311C>A | XP_011509423.1:n.-272-2311C>A |