HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37733338G>A , CM000684.2:g.37733338G>A | GRCh38 |
NC_000022.10:g.38129345G>A , CM000684.1:g.38129345G>A | GRCh37 |
NC_000022.9:g.36459291G>A | NCBI36 |
NG_012857.1:g.41351G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644935.1:c.3988G>A MANE Select | ENSP00000496394.1:p.Gly1330Arg | |
ENST00000344404.10:c.*3471G>A | ENSP00000340312.6:n.*3471G>A | |
ENST00000406386.7:c.3988G>A | ENSP00000384312.3:p.Gly1330Arg | |
NM_001039141.2:c.3988G>A | NP_001034230.1:p.Gly1330Arg | |
XM_011530646.1:c.512-2979C>T | XP_011528948.1:n.512-2979C>T | |
NM_001039141.3:c.3988G>A MANE Select | NP_001034230.1:p.Gly1330Arg |