HGVS | Genome Assembly |
---|---|
NC_000021.9:g.44456717T>A , CM000683.2:g.44456717T>A | GRCh38 |
NC_000021.8:g.45876600T>A , CM000683.1:g.45876600T>A | GRCh37 |
NC_000021.7:g.44701028T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291592.6:c.73T>A MANE Select | ENSP00000291592.4:p.Phe25Ile | |
ENST00000291592.5:c.73T>A | ENSP00000291592.4:p.Phe25Ile | |
NM_030891.4:c.73T>A | NP_112153.1:p.Phe25Ile | |
NM_030891.5:c.73T>A | NP_112153.1:p.Phe25Ile | |
NM_030891.6:c.73T>A MANE Select | NP_112153.1:p.Phe25Ile |