HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6714023C>T , CM000681.2:g.6714023C>T | GRCh38 |
NC_000019.9:g.6714034C>T , CM000681.1:g.6714034C>T | GRCh37 |
NC_000019.8:g.6665034C>T | NCBI36 |
NG_009557.1:g.11629G>A , LRG_27:g.11629G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.619G>A | ENSP00000512083.1:p.Glu207Lys | |
ENST00000245907.11:c.742G>A MANE Select | ENSP00000245907.4:p.Glu248Lys | |
ENST00000245907.10:c.742G>A | ENSP00000245907.4:p.Glu248Lys | |
ENST00000595577.1:n.246G>A | ||
NM_000064.3:c.742G>A | NP_000055.2:p.Glu248Lys | |
NM_000064.4:c.742G>A MANE Select | NP_000055.2:p.Glu248Lys |