HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57763671G= , CM000674.2:g.57763671G= | GRCh38 |
NC_000012.11:g.58157454G= , CM000674.1:g.58157454G= | GRCh37 |
NC_000012.10:g.56443721G= | NCBI36 |
NG_007076.1:g.8523C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1434C= | ENSP00000518840.1:p.Gly478= | |
ENST00000713545.1:c.*358C= | ENSP00000518841.1:n.*358C= | |
ENST00000228606.9:c.1353C= MANE Select | ENSP00000228606.4:p.Gly451= | |
ENST00000228606.8:c.1353C= | ENSP00000228606.4:p.Gly451= | |
ENST00000547344.5:n.1492C= | ||
NM_000785.3:c.1353C= | NP_000776.1:p.Gly451= | |
NM_000785.4:c.1353C= MANE Select | NP_000776.1:p.Gly451= |