HGVS | Genome Assembly |
---|---|
NC_000002.12:g.84425582C>A , CM000664.2:g.84425582C>A | GRCh38 |
NC_000002.11:g.84652706C>A , CM000664.1:g.84652706C>A | GRCh37 |
NC_000002.10:g.84506217C>A | NCBI36 |
NG_016755.1:g.38881G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000393868.7:c.847G>T MANE Select | ENSP00000377446.2:p.Val283Leu | |
ENST00000651342.1:c.*287G>T | ENSP00000498471.1:n.*287G>T | |
ENST00000393868.6:c.847G>T | ENSP00000377446.2:p.Val283Leu | |
ENST00000484365.1:n.1355G>T | ||
ENST00000487809.1:n.594G>T | ||
ENST00000491123.5:n.693G>T | ||
NM_003849.3:c.847G>T | NP_003840.2:p.Val283Leu | |
NM_003849.4:c.847G>T MANE Select | NP_003840.2:p.Val283Leu |