HGVS | Genome Assembly |
---|---|
NC_000011.10:g.124872521C>A , CM000673.2:g.124872521C>A | GRCh38 |
NC_000011.9:g.124742417C>A , CM000673.1:g.124742417C>A | GRCh37 |
NC_000011.8:g.124247627C>A | NCBI36 |
NG_016214.1:g.12113C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000397801.6:c.1299C>A MANE Select | ENSP00000380903.1:p.Ile433= | |
ENST00000397801.5:c.1299C>A | ENSP00000380903.1:p.Ile433= | |
ENST00000538940.5:c.1233C>A | ENSP00000441797.1:p.Ile411= | |
NM_022370.3:c.1299C>A | NP_071765.2:p.Ile433= | |
XM_011542953.1:c.2271C>A | XP_011541255.1:p.Ile757= | |
XM_017018122.1:c.1233C>A | XP_016873611.1:p.Ile411= | |
NM_022370.4:c.1299C>A MANE Select | NP_071765.2:p.Ile433= |