HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6714061A>T , CM000681.2:g.6714061A>T | GRCh38 |
NC_000019.9:g.6714072A>T , CM000681.1:g.6714072A>T | GRCh37 |
NC_000019.8:g.6665072A>T | NCBI36 |
NG_009557.1:g.11591T>A , LRG_27:g.11591T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.581T>A | ENSP00000512083.1:p.Ile194Lys | |
ENST00000245907.11:c.704T>A MANE Select | ENSP00000245907.4:p.Ile235Lys | |
ENST00000245907.10:c.704T>A | ENSP00000245907.4:p.Ile235Lys | |
ENST00000595577.1:n.208T>A | ||
NM_000064.3:c.704T>A | NP_000055.2:p.Ile235Lys | |
NM_000064.4:c.704T>A MANE Select | NP_000055.2:p.Ile235Lys |