HGVS | Genome Assembly |
---|---|
NC_000005.10:g.45645132C>T , CM000667.2:g.45645132C>T | GRCh38 |
NC_000005.9:g.45645234C>T , CM000667.1:g.45645234C>T | GRCh37 |
NC_000005.8:g.45680991C>T | NCBI36 |
NG_042183.1:g.55987G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303230.6:c.849+53G>A MANE Select | ENSP00000307342.4:n.849+53G>A | |
ENST00000637256.1:n.77+53G>A | ||
ENST00000673735.1:c.849+53G>A | ENSP00000501107.1:n.849+53G>A | |
ENST00000303230.5:c.849+53G>A | ENSP00000307342.4:n.849+53G>A | |
ENST00000634658.1:c.*14G>A | ENSP00000489134.1:n.*14G>A | |
NM_021072.3:c.849+53G>A | NP_066550.2:n.849+53G>A | |
NM_021072.4:c.849+53G>A MANE Select | NP_066550.2:n.849+53G>A |