HGVS | Genome Assembly |
---|---|
NC_000017.11:g.47283428C>A , CM000679.2:g.47283428C>A | GRCh38 |
NC_000017.10:g.45360794C>A , CM000679.1:g.45360794C>A | GRCh37 |
NC_000017.9:g.42715793C>A | NCBI36 |
NG_008332.2:g.34587C>A , LRG_481:g.34587C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696963.1:c.240C>A | ENSP00000513002.1:p.Ile80= | |
ENST00000559488.7:c.240C>A MANE Select | ENSP00000452786.2:p.Ile80= | |
ENST00000559488.5:c.240C>A | ENSP00000452786.1:p.Ile80= | |
ENST00000560629.1:c.205C>A | ||
ENST00000571680.1:c.240C>A | ENSP00000461626.1:p.Ile80= | |
NM_000212.2:c.240C>A , LRG_481t1:c.240C>A | NP_000203.2:p.Ile80= | |
NM_000212.3:c.240C>A MANE Select | NP_000203.2:p.Ile80= |