HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764532A>T , CM000674.2:g.57764532A>T | GRCh38 |
NC_000012.11:g.58158315A>T , CM000674.1:g.58158315A>T | GRCh37 |
NC_000012.10:g.56444582A>T | NCBI36 |
NG_007076.1:g.7662T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1063T>A | ENSP00000518840.1:p.Trp355Arg | |
ENST00000713545.1:c.1040T>A | ENSP00000518841.1:p.Leu347Ter | |
ENST00000228606.9:c.982T>A MANE Select | ENSP00000228606.4:p.Trp328Arg | |
ENST00000228606.8:c.982T>A | ENSP00000228606.4:p.Trp328Arg | |
ENST00000546567.5:c.277T>A | ENSP00000449472.1:p.Trp93Arg | |
ENST00000547344.5:n.1121T>A | ||
NM_000785.3:c.982T>A | NP_000776.1:p.Trp328Arg | |
NM_000785.4:c.982T>A MANE Select | NP_000776.1:p.Trp328Arg |