HGVS | Genome Assembly |
---|---|
NC_000002.12:g.85216801G>A , CM000664.2:g.85216801G>A | GRCh38 |
NC_000002.11:g.85443924G>A , CM000664.1:g.85443924G>A | GRCh37 |
NC_000002.10:g.85297435G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000282111.4:c.442-66694G>A MANE Select | ENSP00000282111.3:n.442-66694G>A | |
ENST00000282111.3:c.442-66694G>A | ENSP00000282111.3:n.442-66694G>A | |
ENST00000442813.1:c.-402-219G>A | ENSP00000388984.1:n.-402-219G>A | |
NM_031283.2:c.442-66694G>A | NP_112573.1:n.442-66694G>A | |
XM_006712109.2:c.442-66694G>A | XP_006712172.1:n.442-66694G>A | |
XR_427050.1:n.85-219G>A | ||
NR_136323.1:n.43-219G>A | ||
NM_031283.3:c.442-66694G>A MANE Select | NP_112573.1:n.442-66694G>A |