HGVS | Genome Assembly |
---|---|
NC_000001.11:g.100539865T>A , CM000663.2:g.100539865T>A | GRCh38 |
NC_000001.10:g.101005421T>A , CM000663.1:g.101005421T>A | GRCh37 |
NC_000001.9:g.100778009T>A | NCBI36 |
NG_053134.1:g.6694T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000315033.5:c.899T>A MANE Select | ENSP00000314223.4:p.Leu300Gln | |
ENST00000315033.4:c.899T>A | ENSP00000314223.4:p.Leu300Gln | |
NM_022049.2:c.899T>A | NP_071332.2:p.Leu300Gln | |
NM_022049.3:c.899T>A MANE Select | NP_071332.2:p.Leu300Gln |