HGVS | Genome Assembly |
---|---|
NC_000006.12:g.16290538G>A , CM000668.2:g.16290538G>A | GRCh38 |
NC_000006.11:g.16290769G>A , CM000668.1:g.16290769G>A | GRCh37 |
NC_000006.10:g.16398748G>A | NCBI36 |
NG_013303.1:g.56959G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000259727.5:c.774G>A MANE Select | ENSP00000259727.4:p.Arg258= | |
ENST00000259727.4:c.774G>A | ENSP00000259727.4:p.Arg258= | |
ENST00000540478.1:n.594G>A | ||
ENST00000543191.5:n.269G>A | ||
ENST00000544145.1:n.128G>A | ||
NM_006877.3:c.774G>A | NP_006868.3:p.Arg258= | |
XM_011514508.1:c.917G>A | XP_011512810.1:p.Gly306Glu | |
XM_011514508.2:c.917G>A | XP_011512810.1:p.Gly306Glu | |
NM_006877.4:c.774G>A MANE Select | NP_006868.3:p.Arg258= |