HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764414A>C , CM000674.2:g.57764414A>C | GRCh38 |
NC_000012.11:g.58158197A>C , CM000674.1:g.58158197A>C | GRCh37 |
NC_000012.10:g.56444464A>C | NCBI36 |
NG_007076.1:g.7780T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000713544.1:c.1181T>G | ENSP00000518840.1:p.Leu394Arg | |
ENST00000713545.1:c.*105T>G | ENSP00000518841.1:n.*105T>G | |
ENST00000228606.9:c.1100T>G MANE Select | ENSP00000228606.4:p.Leu367Arg | |
ENST00000228606.8:c.1100T>G | ENSP00000228606.4:p.Leu367Arg | |
ENST00000546567.5:c.395T>G | ENSP00000449472.1:p.Leu132Arg | |
ENST00000547344.5:n.1239T>G | ||
NM_000785.3:c.1100T>G | NP_000776.1:p.Leu367Arg | |
NM_000785.4:c.1100T>G MANE Select | NP_000776.1:p.Leu367Arg |