HGVS | Genome Assembly |
---|---|
NC_000001.11:g.58782232A>T , CM000663.2:g.58782232A>T | GRCh38 |
NC_000001.10:g.59247904A>T , CM000663.1:g.59247904A>T | GRCh37 |
NC_000001.9:g.59020492A>T | NCBI36 |
NG_047027.1:g.6882T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000710273.1:c.905T>A | ENSP00000518166.1:p.Leu302Gln | |
ENST00000371222.4:c.839T>A MANE Select | ENSP00000360266.2:p.Leu280Gln | |
ENST00000678696.1:c.839T>A | ENSP00000503132.1:p.Leu280Gln | |
ENST00000371222.3:c.839T>A | ENSP00000360266.2:p.Leu280Gln | |
NM_002228.3:c.839T>A | NP_002219.1:p.Leu280Gln | |
NM_002228.4:c.839T>A MANE Select | NP_002219.1:p.Leu280Gln |