HGVS | Genome Assembly |
---|---|
NC_000010.11:g.114045300C>T , CM000672.2:g.114045300C>T | GRCh38 |
NC_000010.10:g.115805059C>T , CM000672.1:g.115805059C>T | GRCh37 |
NC_000010.9:g.115795049C>T | NCBI36 |
NG_012187.1:g.6254C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369295.4:c.1168C>T MANE Select | ENSP00000358301.2:p.Leu390= | |
ENST00000369295.3:c.1168C>T | ENSP00000358301.2:p.Leu390= | |
NM_000684.2:c.1168C>T | NP_000675.1:p.Leu390= | |
NM_000684.3:c.1168C>T MANE Select | NP_000675.1:p.Leu390= |