HGVS | Genome Assembly |
---|---|
NC_000017.11:g.49991726A>T , CM000679.2:g.49991726A>T | GRCh38 |
NC_000017.10:g.48069090A>T , CM000679.1:g.48069090A>T | GRCh37 |
NC_000017.9:g.45424089A>T | NCBI36 |
NG_023063.1:g.8499T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000434704.2:c.655T>A MANE Select | ENSP00000389870.2:p.Ser219Thr | |
ENST00000512495.2:c.295T>A | ENSP00000449976.1:p.Ser99Thr | |
NM_005220.2:c.655T>A | NP_005211.1:p.Ser219Thr | |
XM_011524458.1:c.516+1674T>A | XP_011522760.1:n.516+1674T>A | |
NM_005220.3:c.655T>A MANE Select | NP_005211.1:p.Ser219Thr |