HGVS | Genome Assembly |
---|---|
NC_000017.11:g.74920187G>A , CM000679.2:g.74920187G>A | GRCh38 |
NC_000017.10:g.72916282G>A , CM000679.1:g.72916282G>A | GRCh37 |
NC_000017.9:g.70427877G>A | NCBI36 |
NG_007882.1:g.8070C>T | |
NG_033062.1:g.913G>A | |
NG_007882.2:g.8077C>T | |
NG_033062.2:g.913G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614341.5:c.649C>T MANE Select | ENSP00000480279.1:p.Gln217Ter | |
ENST00000579243.1:c.*248C>T | ENSP00000462568.1:n.*248C>T | |
ENST00000614341.4:c.649C>T | ENSP00000480279.1:p.Gln217Ter | |
NM_001282489.2:c.340C>T | NP_001269418.1:p.Gln114Ter | |
NM_173477.4:c.649C>T | NP_775748.2:p.Gln217Ter | |
XM_011524296.1:c.340C>T | XP_011522598.1:p.Gln114Ter | |
XM_011524296.2:c.340C>T | XP_011522598.1:p.Gln114Ter | |
NM_173477.5:c.649C>T MANE Select | NP_775748.2:p.Gln217Ter | |
NM_001282489.3:c.340C>T | NP_001269418.1:p.Gln114Ter |