HGVS | Genome Assembly |
---|---|
NC_000005.10:g.45645524T>A , CM000667.2:g.45645524T>A | GRCh38 |
NC_000005.9:g.45645626T>A , CM000667.1:g.45645626T>A | GRCh37 |
NC_000005.8:g.45681383T>A | NCBI36 |
NG_042183.1:g.55595A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000303230.6:c.510A>T MANE Select | ENSP00000307342.4:p.Gln170His | |
ENST00000673735.1:c.510A>T | ENSP00000501107.1:p.Gln170His | |
ENST00000303230.5:c.510A>T | ENSP00000307342.4:p.Gln170His | |
ENST00000634658.1:c.510A>T | ENSP00000489134.1:p.Gln170His | |
NM_021072.3:c.510A>T | NP_066550.2:p.Gln170His | |
NM_021072.4:c.510A>T MANE Select | NP_066550.2:p.Gln170His |