HGVS | Genome Assembly |
---|---|
NC_000017.11:g.49991730G>A , CM000679.2:g.49991730G>A | GRCh38 |
NC_000017.10:g.48069094G>A , CM000679.1:g.48069094G>A | GRCh37 |
NC_000017.9:g.45424093G>A | NCBI36 |
NG_023063.1:g.8495C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000434704.2:c.651C>T MANE Select | ENSP00000389870.2:p.Asp217= | |
ENST00000512495.2:c.291C>T | ENSP00000449976.1:p.Asp97= | |
NM_005220.2:c.651C>T | NP_005211.1:p.Asp217= | |
XM_011524458.1:c.516+1670C>T | XP_011522760.1:n.516+1670C>T | |
NM_005220.3:c.651C>T MANE Select | NP_005211.1:p.Asp217= |