HGVS | Genome Assembly |
---|---|
NC_000021.9:g.44456724T>A , CM000683.2:g.44456724T>A | GRCh38 |
NC_000021.8:g.45876607T>A , CM000683.1:g.45876607T>A | GRCh37 |
NC_000021.7:g.44701035T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291592.6:c.80T>A MANE Select | ENSP00000291592.4:p.Leu27Gln | |
ENST00000291592.5:c.80T>A | ENSP00000291592.4:p.Leu27Gln | |
NM_030891.4:c.80T>A | NP_112153.1:p.Leu27Gln | |
NM_030891.5:c.80T>A | NP_112153.1:p.Leu27Gln | |
NM_030891.6:c.80T>A MANE Select | NP_112153.1:p.Leu27Gln |