HGVS | Genome Assembly |
---|---|
NC_000017.11:g.74919968C>T , CM000679.2:g.74919968C>T | GRCh38 |
NC_000017.10:g.72916063C>T , CM000679.1:g.72916063C>T | GRCh37 |
NC_000017.9:g.70427658C>T | NCBI36 |
NG_007882.1:g.8289G>A | |
NG_033062.1:g.694C>T | |
NG_007882.2:g.8296G>A | |
NG_033062.2:g.694C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614341.5:c.868G>A MANE Select | ENSP00000480279.1:p.Ala290Thr | |
ENST00000579243.1:c.*467G>A | ENSP00000462568.1:n.*467G>A | |
ENST00000614341.4:c.868G>A | ENSP00000480279.1:p.Ala290Thr | |
NM_001282489.2:c.559G>A | NP_001269418.1:p.Ala187Thr | |
NM_173477.4:c.868G>A | NP_775748.2:p.Ala290Thr | |
XM_011524296.1:c.559G>A | XP_011522598.1:p.Ala187Thr | |
XM_011524296.2:c.559G>A | XP_011522598.1:p.Ala187Thr | |
NM_173477.5:c.868G>A MANE Select | NP_775748.2:p.Ala290Thr | |
NM_001282489.3:c.559G>A | NP_001269418.1:p.Ala187Thr |