HGVS | Genome Assembly |
---|---|
NC_000021.9:g.44456712T>G , CM000683.2:g.44456712T>G | GRCh38 |
NC_000021.8:g.45876595T>G , CM000683.1:g.45876595T>G | GRCh37 |
NC_000021.7:g.44701023T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291592.6:c.68T>G MANE Select | ENSP00000291592.4:p.Leu23Arg | |
ENST00000291592.5:c.68T>G | ENSP00000291592.4:p.Leu23Arg | |
NM_030891.4:c.68T>G | NP_112153.1:p.Leu23Arg | |
NM_030891.5:c.68T>G | NP_112153.1:p.Leu23Arg | |
NM_030891.6:c.68T>G MANE Select | NP_112153.1:p.Leu23Arg |