HGVS | Genome Assembly |
---|---|
NC_000017.11:g.6780545T>A , CM000679.2:g.6780545T>A | GRCh38 |
NC_000017.10:g.6683864T>A , CM000679.1:g.6683864T>A | GRCh37 |
NC_000017.9:g.6624588T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000321535.5:c.677T>A MANE Select | ENSP00000321386.4:p.Leu226His | |
ENST00000321535.4:c.677T>A | ENSP00000321386.4:p.Leu226His | |
NM_153230.2:c.677T>A | NP_694962.1:p.Leu226His | |
XM_011523697.1:c.677T>A | XP_011521999.1:p.Leu226His | |
XR_243544.3:n.855T>A | ||
NM_153230.3:c.677T>A MANE Select | NP_694962.1:p.Leu226His |