HGVS | Genome Assembly |
---|---|
NC_000011.10:g.2445438C= , CM000673.2:g.2445438C= | GRCh38 |
NC_000011.9:g.2466668C= , CM000673.1:g.2466668C= | GRCh37 |
NC_000011.8:g.2423244C= | NCBI36 |
NG_008935.1:g.5448C= , LRG_287:g.5448C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000496887.7:c.79C= | ENSP00000434560.2:p.Leu27= | |
ENST00000646564.2:c.340C= | ENSP00000495806.2:p.Leu114= | |
ENST00000155840.12:c.340C= MANE Select | ENSP00000155840.2:p.Leu114= | |
ENST00000155840.9:c.340C= | ENSP00000155840.2:p.Leu114= | |
ENST00000345015.4:n.117C= | ||
ENST00000496887.6:c.79C= | ENSP00000434560.1:p.Leu27= | |
NM_000218.2:c.340C= , LRG_287t1:c.340C= | NP_000209.2:p.Leu114= | |
NM_000218.3:c.340C= MANE Select | NP_000209.2:p.Leu114= |