HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764163C>A , CM000674.2:g.57764163C>A | GRCh38 |
NC_000012.11:g.58157946C>A , CM000674.1:g.58157946C>A | GRCh37 |
NC_000012.10:g.56444213C>A | NCBI36 |
NG_007076.1:g.8031G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1231G>T | ENSP00000518840.1:p.Val411Leu | |
ENST00000713545.1:c.*155G>T | ENSP00000518841.1:n.*155G>T | |
ENST00000228606.9:c.1150G>T MANE Select | ENSP00000228606.4:p.Val384Leu | |
ENST00000228606.8:c.1150G>T | ENSP00000228606.4:p.Val384Leu | |
ENST00000546567.5:c.445G>T | ENSP00000449472.1:p.Val149Leu | |
ENST00000547344.5:n.1289G>T | ||
NM_000785.3:c.1150G>T | NP_000776.1:p.Val384Leu | |
NM_000785.4:c.1150G>T MANE Select | NP_000776.1:p.Val384Leu |