HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154814A>C , CM000681.2:g.55154814A>C | GRCh38 |
NC_000019.9:g.55666182A>C , CM000681.1:g.55666182A>C | GRCh37 |
NC_000019.8:g.60357994A>C | NCBI36 |
NG_007866.2:g.7919T>G , LRG_432:g.7919T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.299T>G MANE Select | ENSP00000341838.5:p.Leu100Arg | |
ENST00000665070.1:c.299T>G | ENSP00000499482.1:p.Leu100Arg | |
ENST00000344887.9:c.299T>G | ENSP00000341838.5:p.Leu100Arg | |
ENST00000585806.5:n.298T>G | ||
ENST00000586669.5:n.307T>G | ||
ENST00000587176.5:n.483T>G | ||
ENST00000587871.1:c.918T>G | ||
ENST00000588882.1:c.224T>G | ENSP00000466729.1:p.Leu75Arg | |
ENST00000590463.1:n.471T>G | ||
NM_000363.4:c.299T>G , LRG_432t1:c.299T>G | NP_000354.4:p.Leu100Arg | |
NM_000363.5:c.299T>G MANE Select | NP_000354.4:p.Leu100Arg |