HGVS | Genome Assembly |
---|---|
NC_000005.10:g.14871444C>T , CM000667.2:g.14871444C>T | GRCh38 |
NC_000005.9:g.14871553C>T , CM000667.1:g.14871553C>T | GRCh37 |
NC_000005.8:g.14924553C>T | NCBI36 |
NG_008273.1:g.5335G>A | |
NG_008273.2:g.5342G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000284268.8:c.4G>A MANE Select | ENSP00000284268.6:p.Val2Met | |
ENST00000284268.6:c.4G>A | ENSP00000284268.6:p.Val2Met | |
ENST00000505140.1:c.4G>A | ENSP00000426332.1:p.Val2Met | |
ENST00000513115.1:n.29G>A | ||
NM_054027.4:c.4G>A | NP_473368.1:p.Val2Met | |
XM_011514067.1:c.4G>A | XP_011512369.1:p.Val2Met | |
NM_054027.5:c.4G>A | NP_473368.1:p.Val2Met | |
NM_054027.6:c.4G>A MANE Select | NP_473368.1:p.Val2Met |