HGVS | Genome Assembly |
---|---|
NC_000011.10:g.118312638G>A , CM000673.2:g.118312638G>A | GRCh38 |
NC_000011.9:g.118183353G>A , CM000673.1:g.118183353G>A | GRCh37 |
NC_000011.8:g.117688563G>A | NCBI36 |
NG_007383.1:g.13059G>A , LRG_38:g.13059G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361763.9:c.124G>A MANE Select | ENSP00000354566.4:p.Gly42Arg | |
ENST00000361763.8:c.124G>A | ENSP00000354566.4:p.Gly42Arg | |
ENST00000526146.5:n.670G>A | ||
ENST00000528435.5:n.677G>A | ||
ENST00000528600.1:c.106G>A | ENSP00000433975.1:p.Gly36Arg | |
ENST00000529713.5:n.230G>A | ||
ENST00000531913.1:n.495G>A | ||
NM_000733.3:c.124G>A , LRG_38t1:c.124G>A | NP_000724.1:p.Gly42Arg | |
NM_000733.4:c.124G>A MANE Select | NP_000724.1:p.Gly42Arg |