HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94781825G= , CM000672.2:g.94781825G= | GRCh38 |
NC_000010.10:g.96541582G= , CM000672.1:g.96541582G= | GRCh37 |
NC_000010.9:g.96531572G= | NCBI36 |
NG_008384.2:g.24120G= | |
NG_008384.3:g.24145G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371321.9:c.647G= MANE Select | ENSP00000360372.3:p.Cys216= | |
ENST00000645461.1:n.1700G= | ||
ENST00000371321.7:c.647G= | ENSP00000360372.3:p.Cys216= | |
ENST00000464755.1:c.1410G= | ENSP00000483243.1:n.1410G= | |
NM_000769.2:c.647G= | NP_000760.1:p.Cys216= | |
NM_000769.4:c.647G= MANE Select | NP_000760.1:p.Cys216= |