HGVS | Genome Assembly |
---|---|
NC_000017.11:g.49991728G>T , CM000679.2:g.49991728G>T | GRCh38 |
NC_000017.10:g.48069092G>T , CM000679.1:g.48069092G>T | GRCh37 |
NC_000017.9:g.45424091G>T | NCBI36 |
NG_023063.1:g.8497C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000434704.2:c.653C>A MANE Select | ENSP00000389870.2:p.Thr218Asn | |
ENST00000512495.2:c.293C>A | ENSP00000449976.1:p.Thr98Asn | |
NM_005220.2:c.653C>A | NP_005211.1:p.Thr218Asn | |
XM_011524458.1:c.516+1672C>A | XP_011522760.1:n.516+1672C>A | |
NM_005220.3:c.653C>A MANE Select | NP_005211.1:p.Thr218Asn |