HGVS | Genome Assembly |
---|---|
NC_000001.11:g.100539808T>A , CM000663.2:g.100539808T>A | GRCh38 |
NC_000001.10:g.101005364T>A , CM000663.1:g.101005364T>A | GRCh37 |
NC_000001.9:g.100777952T>A | NCBI36 |
NG_053134.1:g.6637T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000315033.5:c.842T>A MANE Select | ENSP00000314223.4:p.Leu281His | |
ENST00000315033.4:c.842T>A | ENSP00000314223.4:p.Leu281His | |
NM_022049.2:c.842T>A | NP_071332.2:p.Leu281His | |
NM_022049.3:c.842T>A MANE Select | NP_071332.2:p.Leu281His |