HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764461C>A , CM000674.2:g.57764461C>A | GRCh38 |
NC_000012.11:g.58158244C>A , CM000674.1:g.58158244C>A | GRCh37 |
NC_000012.10:g.56444511C>A | NCBI36 |
NG_007076.1:g.7733G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1134G>T | ENSP00000518840.1:p.Leu378= | |
ENST00000713545.1:c.*58G>T | ENSP00000518841.1:n.*58G>T | |
ENST00000228606.9:c.1053G>T MANE Select | ENSP00000228606.4:p.Leu351= | |
ENST00000228606.8:c.1053G>T | ENSP00000228606.4:p.Leu351= | |
ENST00000546567.5:c.348G>T | ENSP00000449472.1:p.Leu116= | |
ENST00000547344.5:n.1192G>T | ||
NM_000785.3:c.1053G>T | NP_000776.1:p.Leu351= | |
NM_000785.4:c.1053G>T MANE Select | NP_000776.1:p.Leu351= |