HGVS | Genome Assembly |
---|---|
NC_000017.11:g.6780517A>C , CM000679.2:g.6780517A>C | GRCh38 |
NC_000017.10:g.6683836A>C , CM000679.1:g.6683836A>C | GRCh37 |
NC_000017.9:g.6624560A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000321535.5:c.649A>C MANE Select | ENSP00000321386.4:p.Lys217Gln | |
ENST00000321535.4:c.649A>C | ENSP00000321386.4:p.Lys217Gln | |
NM_153230.2:c.649A>C | NP_694962.1:p.Lys217Gln | |
XM_011523697.1:c.649A>C | XP_011521999.1:p.Lys217Gln | |
XR_243544.3:n.827A>C | ||
NM_153230.3:c.649A>C MANE Select | NP_694962.1:p.Lys217Gln |