HGVS | Genome Assembly |
---|---|
NC_000021.9:g.44456760G>T , CM000683.2:g.44456760G>T | GRCh38 |
NC_000021.8:g.45876643G>T , CM000683.1:g.45876643G>T | GRCh37 |
NC_000021.7:g.44701071G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291592.6:c.116G>T MANE Select | ENSP00000291592.4:p.Cys39Phe | |
ENST00000291592.5:c.116G>T | ENSP00000291592.4:p.Cys39Phe | |
NM_030891.4:c.116G>T | NP_112153.1:p.Cys39Phe | |
NM_030891.5:c.116G>T | NP_112153.1:p.Cys39Phe | |
NM_030891.6:c.116G>T MANE Select | NP_112153.1:p.Cys39Phe |