HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7527627A>G , CM000681.2:g.7527627A>G | GRCh38 |
NC_000019.9:g.7592513A>G , CM000681.1:g.7592513A>G | GRCh37 |
NC_000019.8:g.7498513A>G | NCBI36 |
NG_015806.1:g.10018A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.679A>G MANE Select | ENSP00000264079.5:p.Lys227Glu | |
ENST00000264079.10:c.679A>G | ENSP00000264079.5:p.Lys227Glu | |
ENST00000394321.9:n.759A>G | ||
ENST00000598406.1:n.500A>G | ||
ENST00000601003.1:c.572-237A>G | ENSP00000469074.1:n.572-237A>G | |
NM_020533.2:c.679A>G | NP_065394.1:p.Lys227Glu | |
NM_020533.3:c.679A>G MANE Select | NP_065394.1:p.Lys227Glu |