HGVS | Genome Assembly |
---|---|
NC_000002.12:g.84425479G>T , CM000664.2:g.84425479G>T | GRCh38 |
NC_000002.11:g.84652603G>T , CM000664.1:g.84652603G>T | GRCh37 |
NC_000002.10:g.84506114G>T | NCBI36 |
NG_016755.1:g.38984C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000393868.7:c.950C>A MANE Select | ENSP00000377446.2:p.Ala317Asp | |
ENST00000651342.1:c.*390C>A | ENSP00000498471.1:n.*390C>A | |
ENST00000393868.6:c.950C>A | ENSP00000377446.2:p.Ala317Asp | |
ENST00000484365.1:n.1458C>A | ||
ENST00000487809.1:n.697C>A | ||
ENST00000491123.5:n.796C>A | ||
NM_003849.3:c.950C>A | NP_003840.2:p.Ala317Asp | |
NM_003849.4:c.950C>A MANE Select | NP_003840.2:p.Ala317Asp |