HGVS | Genome Assembly |
---|---|
NC_000020.11:g.3083173G>C , CM000682.2:g.3083173G>C | GRCh38 |
NC_000020.10:g.3063819G>C , CM000682.1:g.3063819G>C | GRCh37 |
NC_000020.9:g.3011819G>C | NCBI36 |
NG_008663.1:g.6552C>G , LRG_715:g.6552C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380293.3:c.126C>G MANE Select | ENSP00000369647.3:p.Leu42= | |
NM_000490.4:c.126C>G , LRG_715t1:c.126C>G | NP_000481.2:p.Leu42= | |
XM_011529267.1:c.126C>G | XP_011527569.1:p.Leu42= | |
XM_011529267.2:c.126C>G | XP_011527569.1:p.Leu42= | |
NM_000490.5:c.126C>G MANE Select | NP_000481.2:p.Leu42= |