HGVS | Genome Assembly |
---|---|
NC_000006.12:g.16290543G>A , CM000668.2:g.16290543G>A | GRCh38 |
NC_000006.11:g.16290774G>A , CM000668.1:g.16290774G>A | GRCh37 |
NC_000006.10:g.16398753G>A | NCBI36 |
NG_013303.1:g.56964G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000259727.5:c.779G>A MANE Select | ENSP00000259727.4:p.Gly260Glu | |
ENST00000259727.4:c.779G>A | ENSP00000259727.4:p.Gly260Glu | |
ENST00000540478.1:n.599G>A | ||
ENST00000543191.5:n.274G>A | ||
ENST00000544145.1:n.133G>A | ||
NM_006877.3:c.779G>A | NP_006868.3:p.Gly260Glu | |
XM_011514508.1:c.922G>A | XP_011512810.1:p.Asp308Asn | |
XM_011514508.2:c.922G>A | XP_011512810.1:p.Asp308Asn | |
NM_006877.4:c.779G>A MANE Select | NP_006868.3:p.Gly260Glu |