HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713297C>T , CM000681.2:g.6713297C>T | GRCh38 |
NC_000019.9:g.6713308C>T , CM000681.1:g.6713308C>T | GRCh37 |
NC_000019.8:g.6664308C>T | NCBI36 |
NG_009557.1:g.12355G>A , LRG_27:g.12355G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.772G>A | ENSP00000512083.1:p.Glu258Lys | |
ENST00000695654.1:c.19G>A | ENSP00000512085.1:p.Glu7Lys | |
ENST00000695692.1:n.219G>A | ||
ENST00000245907.11:c.895G>A MANE Select | ENSP00000245907.4:p.Glu299Lys | |
ENST00000245907.10:c.895G>A | ENSP00000245907.4:p.Glu299Lys | |
ENST00000594270.5:n.19G>A | ||
ENST00000595577.1:n.399G>A | ||
ENST00000597442.5:n.145G>A | ||
NM_000064.3:c.895G>A | NP_000055.2:p.Glu299Lys | |
NM_000064.4:c.895G>A MANE Select | NP_000055.2:p.Glu299Lys |