HGVS | Genome Assembly |
---|---|
NC_000005.10:g.83076846G>T , CM000667.2:g.83076846G>T | GRCh38 |
NC_000005.9:g.82372665G>T , CM000667.1:g.82372665G>T | GRCh37 |
NC_000005.8:g.82408421G>T | NCBI36 |
NG_047086.1:g.4438G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000502346.2:c.3+475C>A MANE Select | ENSP00000424707.1:n.3+475C>A | |
ENST00000502346.1:c.3+475C>A | ENSP00000424707.1:n.3+475C>A | |
ENST00000503892.1:n.146+872C>A | ||
ENST00000504622.5:n.133+475C>A | ||
ENST00000509770.1:n.104+475C>A | ||
ENST00000511450.5:n.47+475C>A | ||
NM_174909.4:c.3+475C>A | NP_777569.1:n.3+475C>A | |
NM_174909.5:c.3+475C>A MANE Select | NP_777569.1:n.3+475C>A |