HGVS | Genome Assembly |
---|---|
NC_000017.11:g.6780511dup , CM000679.2:g.6780511dup | GRCh38 |
NC_000017.10:g.6683830dup , CM000679.1:g.6683830dup | GRCh37 |
NC_000017.9:g.6624554dup | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000321535.5:c.643dup MANE Select | ENSP00000321386.4:p.Gln215ProfsTer28 | |
ENST00000321535.4:c.643dup | ENSP00000321386.4:p.Gln215ProfsTer28 | |
NM_153230.2:c.643dup | NP_694962.1:p.Gln215ProfsTer28 | |
XM_011523697.1:c.643dup | XP_011521999.1:p.Gln215ProfsTer28 | |
XR_243544.3:n.821dup | ||
NM_153230.3:c.643dup MANE Select | NP_694962.1:p.Gln215ProfsTer28 |