HGVS | Genome Assembly |
---|---|
NC_000004.12:g.185144771A>T , CM000666.2:g.185144771A>T | GRCh38 |
NC_000004.11:g.186065925A>T , CM000666.1:g.186065925A>T | GRCh37 |
NC_000004.10:g.186302919A>T | NCBI36 |
NG_013001.1:g.6509A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000281456.11:c.119A>T MANE Select | ENSP00000281456.5:p.His40Leu | |
ENST00000281456.10:c.119A>T | ENSP00000281456.5:p.His40Leu | |
ENST00000491736.1:c.119A>T | ENSP00000476711.1:p.His40Leu | |
NM_001151.3:c.119A>T | NP_001142.2:p.His40Leu | |
NM_001151.4:c.119A>T MANE Select | NP_001142.2:p.His40Leu |