HGVS | Genome Assembly |
---|---|
NC_000017.11:g.49991733C>T , CM000679.2:g.49991733C>T | GRCh38 |
NC_000017.10:g.48069097C>T , CM000679.1:g.48069097C>T | GRCh37 |
NC_000017.9:g.45424096C>T | NCBI36 |
NG_023063.1:g.8492G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000434704.2:c.648G>A MANE Select | ENSP00000389870.2:p.Trp216Ter | |
ENST00000512495.2:c.288G>A | ENSP00000449976.1:p.Trp96Ter | |
NM_005220.2:c.648G>A | NP_005211.1:p.Trp216Ter | |
XM_011524458.1:c.516+1667G>A | XP_011522760.1:n.516+1667G>A | |
NM_005220.3:c.648G>A MANE Select | NP_005211.1:p.Trp216Ter |