HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57766043C>A , CM000674.2:g.57766043C>A | GRCh38 |
NC_000012.11:g.58159826C>A , CM000674.1:g.58159826C>A | GRCh37 |
NC_000012.10:g.56446093C>A | NCBI36 |
NG_007076.1:g.6151G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000546609.2:n.262G>T | ||
ENST00000713544.1:c.350G>T | ENSP00000518840.1:p.Arg117Leu | |
ENST00000713545.1:c.350G>T | ENSP00000518841.1:p.Arg117Leu | |
ENST00000228606.9:c.350G>T MANE Select | ENSP00000228606.4:p.Arg117Leu | |
ENST00000228606.8:c.350G>T | ENSP00000228606.4:p.Arg117Leu | |
ENST00000546496.1:n.178G>T | ||
ENST00000546609.1:c.262G>T | ||
ENST00000547344.5:n.404G>T | ||
ENST00000552186.1:n.469G>T | ||
NM_000785.3:c.350G>T | NP_000776.1:p.Arg117Leu | |
NM_000785.4:c.350G>T MANE Select | NP_000776.1:p.Arg117Leu |