HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764406G>T , CM000674.2:g.57764406G>T | GRCh38 |
NC_000012.11:g.58158189G>T , CM000674.1:g.58158189G>T | GRCh37 |
NC_000012.10:g.56444456G>T | NCBI36 |
NG_007076.1:g.7788C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1189C>A | ENSP00000518840.1:p.Leu397Met | |
ENST00000713545.1:c.*113C>A | ENSP00000518841.1:n.*113C>A | |
ENST00000228606.9:c.1108C>A MANE Select | ENSP00000228606.4:p.Leu370Met | |
ENST00000228606.8:c.1108C>A | ENSP00000228606.4:p.Leu370Met | |
ENST00000546567.5:c.403C>A | ENSP00000449472.1:p.Leu135Met | |
ENST00000547344.5:n.1247C>A | ||
NM_000785.3:c.1108C>A | NP_000776.1:p.Leu370Met | |
NM_000785.4:c.1108C>A MANE Select | NP_000776.1:p.Leu370Met |