HGVS | Genome Assembly |
---|---|
NC_000013.11:g.92670940G>A , CM000675.2:g.92670940G>A | GRCh38 |
NC_000013.10:g.93323193G>A , CM000675.1:g.93323193G>A | GRCh37 |
NC_000013.9:g.92121194G>A | NCBI36 |
NG_009370.1:g.1277259G>A | |
NG_009370.2:g.1277260G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000377067.9:c.1562-195342G>A MANE Select | ENSP00000366267.3:n.1562-195342G>A | |
ENST00000377067.8:c.1562-195342G>A | ENSP00000366267.3:n.1562-195342G>A | |
NM_004466.5:c.1562-195342G>A | NP_004457.1:n.1562-195342G>A | |
XR_931643.1:n.173+6578C>T | ||
XR_931644.1:n.173+6578C>T | ||
XM_017020435.2:c.1562-79024G>A | XP_016875924.1:n.1562-79024G>A | |
XR_931643.3:n.2210+6578C>T | ||
XR_931644.2:n.2210+6578C>T | ||
NM_004466.6:c.1562-195342G>A MANE Select | NP_004457.1:n.1562-195342G>A |