HGVS | Genome Assembly |
---|---|
NC_000017.11:g.58280400G>C , CM000679.2:g.58280400G>C | GRCh38 |
NC_000017.10:g.56357761G>C , CM000679.1:g.56357761G>C | GRCh37 |
NC_000017.9:g.53712760G>C | NCBI36 |
NG_009629.1:g.5536C>G , LRG_84:g.5536C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000225275.4:c.214C>G MANE Select | ENSP00000225275.3:p.Leu72Val | |
ENST00000225275.3:c.214C>G | ENSP00000225275.3:p.Leu72Val | |
ENST00000580005.1:n.143C>G | ||
NM_000250.1:c.214C>G , LRG_84t1:c.214C>G | NP_000241.1:p.Leu72Val | |
XM_011524821.1:c.400C>G | XP_011523123.1:p.Leu134Val | |
XM_011524822.1:c.-38+205C>G | XP_011523124.1:n.-38+205C>G | |
XM_011524823.1:c.400C>G | XP_011523125.1:p.Leu134Val | |
NM_000250.2:c.214C>G MANE Select | NP_000241.1:p.Leu72Val |