HGVS | Genome Assembly |
---|---|
NC_000011.10:g.124872913C= , CM000673.2:g.124872913C= | GRCh38 |
NC_000011.9:g.124742809C= , CM000673.1:g.124742809C= | GRCh37 |
NC_000011.8:g.124248019C= | NCBI36 |
NG_016214.1:g.12505C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000397801.6:c.1360C= MANE Select | ENSP00000380903.1:p.Leu454= | |
ENST00000397801.5:c.1360C= | ENSP00000380903.1:p.Leu454= | |
ENST00000538940.5:c.1294C= | ENSP00000441797.1:p.Leu432= | |
NM_022370.3:c.1360C= | NP_071765.2:p.Leu454= | |
XM_011542953.1:c.2332C= | XP_011541255.1:p.Leu778= | |
XM_017018122.1:c.1294C= | XP_016873611.1:p.Leu432= | |
NM_022370.4:c.1360C= MANE Select | NP_071765.2:p.Leu454= |