HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764381A>C , CM000674.2:g.57764381A>C | GRCh38 |
NC_000012.11:g.58158164A>C , CM000674.1:g.58158164A>C | GRCh37 |
NC_000012.10:g.56444431A>C | NCBI36 |
NG_007076.1:g.7813T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1214T>G | ENSP00000518840.1:p.Leu405Arg | |
ENST00000713545.1:c.*138T>G | ENSP00000518841.1:n.*138T>G | |
ENST00000228606.9:c.1133T>G MANE Select | ENSP00000228606.4:p.Leu378Arg | |
ENST00000228606.8:c.1133T>G | ENSP00000228606.4:p.Leu378Arg | |
ENST00000546567.5:c.428T>G | ENSP00000449472.1:p.Leu143Arg | |
ENST00000547344.5:n.1272T>G | ||
NM_000785.3:c.1133T>G | NP_000776.1:p.Leu378Arg | |
NM_000785.4:c.1133T>G MANE Select | NP_000776.1:p.Leu378Arg |