HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764147C>A , CM000674.2:g.57764147C>A | GRCh38 |
NC_000012.11:g.58157930C>A , CM000674.1:g.58157930C>A | GRCh37 |
NC_000012.10:g.56444197C>A | NCBI36 |
NG_007076.1:g.8047G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000713544.1:c.1247G>T | ENSP00000518840.1:p.Arg416Leu | |
ENST00000713545.1:c.*171G>T | ENSP00000518841.1:n.*171G>T | |
ENST00000228606.9:c.1166G>T MANE Select | ENSP00000228606.4:p.Arg389Leu | |
ENST00000228606.8:c.1166G>T | ENSP00000228606.4:p.Arg389Leu | |
ENST00000546567.5:c.461G>T | ENSP00000449472.1:p.Arg154Leu | |
ENST00000547344.5:n.1305G>T | ||
NM_000785.3:c.1166G>T | NP_000776.1:p.Arg389Leu | |
NM_000785.4:c.1166G>T MANE Select | NP_000776.1:p.Arg389Leu |