HGVS | Genome Assembly |
---|---|
NC_000002.12:g.46306170C>A , CM000664.2:g.46306170C>A | GRCh38 |
NC_000002.11:g.46533309C>A , CM000664.1:g.46533309C>A | GRCh37 |
NC_000002.10:g.46386813C>A | NCBI36 |
NG_016000.1:g.13769C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263734.5:c.26+8233C>A MANE Select | ENSP00000263734.3:n.26+8233C>A | |
ENST00000263734.4:c.26+8233C>A | ENSP00000263734.3:n.26+8233C>A | |
ENST00000449347.5:c.26+8233C>A | ENSP00000406137.1:n.26+8233C>A | |
ENST00000460015.1:n.432+12072C>A | ||
ENST00000467888.5:n.174+8233C>A | ||
NM_001430.4:c.26+8233C>A | NP_001421.2:n.26+8233C>A | |
XR_940055.1:n.2501+7923G>T | ||
NM_001430.5:c.26+8233C>A MANE Select | NP_001421.2:n.26+8233C>A |