HGVS | Genome Assembly |
---|---|
NC_000014.9:g.28767648G>A , CM000676.2:g.28767648G>A | GRCh38 |
NC_000014.8:g.29236854G>A , CM000676.1:g.29236854G>A | GRCh37 |
NC_000014.7:g.28306605G>A | NCBI36 |
NG_009367.1:g.5568G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706482.1:c.369G>A | ENSP00000516406.1:p.Gly123= | |
ENST00000313071.7:c.369G>A MANE Select | ENSP00000339004.3:p.Gly123= | |
ENST00000313071.6:c.369G>A | ENSP00000339004.3:p.Gly123= | |
NM_005249.4:c.369G>A | NP_005240.3:p.Gly123= | |
NM_005249.5:c.369G>A MANE Select | NP_005240.3:p.Gly123= |